1. 60 year old male, active, energetic, develops left ventricular trigemini ectopic beats. ECGs confirm. Exercise capacity falls away quickly, shortness of breath being the main limiting factor. Out of character behavior changes take place: stairs are avoided, walking to the supermarket is replaced with a trip in the car.
2. Joint and muscle pain becomes daily and limiting: even light gardening/mowing results in knee and wrist pain and general aces and pains and unusual fatigue.
4. Angiogram shows some arterial irregularities but no blockages. Echo shows there is no myocarditis.
5. A bout of gout occurs after dehydration and strong anti inflammatory meds are taken, liberally, for 36 hours.
6. Male wakes after good sleep, feeling like re-born: no aches, pains, breathing is easier, palpitations are no longer noticeable. Man mows large lawn, walks dogs 4 miles and bounds up stairs.
7. The new status quo persists, bloods are taken to explore rheumatological causes, results will be known Monday 25th Nov and I'll add them to the posts.
8. Ezetimibe discontinued, allopurinol continued.
9.Male is of Irish parentage, he and his siblings experience Reynaud's syndrome, two of his three daughters have Hashimoto's syndrome. His mother, who smoked and took little exercise, had atherosclerosis and a heart attach at age 54. No other family history of heart problems.
10. It's good to feel great again, but what caused this past summer of pain, reduced exercise capacity and so on???
14
@Malcolm Kelly
Asking here??
4
@Malcolm Kelly
Are you trying to solicit medical opinions here? Diagnosis by forum/social media is a most hazardous activity.
10
Why not thalidomide for Behcets? It’s ever so much less expensive than Humira.
1
@AKM Thalomid IS one of the medications that can be tried for Behcet's, but with the REMS program in place, it is next to impossible to get an insurance company to agree to work with this stuff.
We tried to get our daughter on it...the repeat pregnancy tests, the patient/doctor/pharmacist all reading tons of papers and taking baseline and every 28 day quiz...no dice, insurance would not go along with it.
As an internist, I always fear that many people read these articles and think that the primary care doctor should have figured it out. We can’t know everything, from all the basics to esoterica that even many specialists don’t think about. We can’t discover it all during a 15 minute visit (that’s what insurance or Medicare covers) that is also supposed to cover health maintenance as well as their hypertension and other chronic diseases. I often feel like the difference between specialists and primary care doctors is that they get 30 minutes to talk about one thing and I get 15 minutes to talk about 5. I love internal medicine, but I also see why no one is going into this field, to the detriment of the health care system. That said, at least the coronary vasospasm and treatment with verapamil is a medical student diagnosis.
7
The author of this series is often imprecise. Nail discoloration IS NOT a sign of psoriasis. Pitting of the nails may be. Apthous ulcers are quite common and the vast majority of people who get them DO NOT have Behcet's disease. I hope this article does not lead to a flood of people seeking to find out from their doctor if they have Behcet's. Finally, to the lay people reading this article- when you narrow the scope of your practice( like the cardiologist who focuses on women's health) or when you are a rheumatologist, the questions that were asked of the patient are routine. Nothing that should not be expected from people who already had the advantage of knowing she suffered from vasospasm.
6
@samuel Agree with your concern. Note further: while nail dystrophy and aphthae do occur nonspecifically in various ailments, the primary finding here of coronary vasospasm without recognizable endothelial damage from vasculitis does not itself support a diagnosis of Behcet's.
Considering all the ten objective ways the heart can be damaged by true Behcet's, relying on "vasospasm" means that the diagnosis is speculative, if not confabulatory. It might at best be plausible, were such vasospasm to occur in the context of endocarditis, uveitis, thrombophlebitis, erythema nodosum, or other recognized features. Failing that, the best one could do would be to propose an incomplete hypothetical diagnosis, proceeding cautiously with followup and with the safest and least costly treatment trials. And being ready to withdraw threatment when it generates toxicity, or when it's realized that there hasn't been a good way to know if it's efficacious. As far as treatment: be aware that the evidence supporting adalimumab over other treatments for true Behcet's is nonexistent and reflects a hopeful opinion based only on anecdotal, uncontrolled cases series.
Among the lessons to be drawn from this case description, it's that the medical reasoning process can be confounded in the forest of arcana surrounding less common disorders.
Wow, this person got an appointment with a specialist in a month? That’s almost unbelievable. Here in the Midwest, it takes three to six months to get an appointment with “your” doctor.
8
Fascinating. And people think private insurance is the best thing.
5
Hello! Doesn’t this pic scream infectious? Whatever “syndrome” one wants to call it, this constellation of symptoms appears to have a microbial basis and it shocks me how quickly US docs jump in with dangerous, lifelong immune suppressants which do not cure A THING or address root cause.
How about a comprehensive ID work up, including stealth, common pathogens that we know can cause vasculitis, ulcers, cardiac issues (incl heart attack), dermatologic manifestations, and general inflammation, like Bartonella/ Brucella?
https://www.galaxydx.com/bartonella-lyme-impact-heart-health/
https://www.ncbi.nlm.nih.gov/pubmed/6603443/
https://www.ncbi.nlm.nih.gov/pubmed/17401716/
https://academic.oup.com/cid/article/31/4/904/375799
https://www.sciencedirect.com/science/article/pii/S1286457917301867
5
@Dana Parish Didn't you read the article?
5
@Dana Parish No, it is NOT microbial in basis.
How do I know?
My poor child was constantly tested, for STDs, for blood infections, biopsies of ulcers and lesions inside and out, bone marrow biopsy, and towards the end, specialized fungal panels of blood and lungs were sent out...too bad those tests can take weeks, and were finalized after her death.
In fact, on autopsy, no infections were found.
NONE.
The problem with this vignette, as a cardiologist, is that Behcets Disease causing a heart attack would not have normal coronary arteries or coronary spasm. When BD causes a heart attack, it is due to vasculitis and may have an aneurysm associated with it. This patient's physicians are truly excellent but the clinical tale could not have happened as described without additional details being left out.
8
After reading this , I am convinced that the doctors must ask themselves "Why did this happen"?, And get the patient's response and then ask "Why" once again, using the patient's inputs.
This is a 5 level investigation and these 5 WHY's helps us to identify the root cause of most problems- it does help in most problem solving strategies anyway
This is also a gentle reminder to us that we know so little about our own bodies.
3
Interesting.
Might have been useful to report that the medication prescribed is in the $5,000 range.
I have a medical issue that remains a mystery. It’s not life threatening - I don’t think - but the cost of further exploration, and possibly medication, is beyond my ability to pay.
14
My friend received the same diagnosis after periods intense, crippling joint and leg pain, permanent blindness in one eye due to the restriction of blood to his retina and cankers in various locations. He is from DRC and spent 11 years in a Zambian refugee camp before being relocated to the US pre- Trumpian restrictions on refugees. He spent 10 days in the hospital, 7 in a research hospital; 3 months on disability. Fortunately, he has excellent insurance through his employer. He was eventually placed on adalimumab, or Humira 2 times a month. Each dose is bout $2500 or $5000 a month. Because of some mysterious cost sharing between his insurer and the drug manufacturer, Abbvie, he pays around $50 a month out of pocket.
The drug is advertised regularly on TV and I suppose helps a lot of people, as it has so far helped my friend. The condition has no cure, so we just hope and pray the inflammation has been arrested and his sight and ability to continue to work are preserved.
9
Those of us with genetic connective tissue (collagen) "disorders" (lumped under joint hyper mobility syndrome) eventually connect the dots between mitral valve prolapse; the resulting "benign" PVCs, recurring spine issues (when younger), and (surprisingly) the ineffectiveness of Novocaine for dental procedures. Only one cardiologist in 2014 while in my late 50's made the connection for me; never any primary care physicians. (When I was a young adult I was suspicious that Novocaine had no personal pain reduction benefit and with a dentist's permission skipped it to verify its ineffectiveness!) Yes, it would have been preferable to have this knowledge decades sooner.
8
@Phil, I have all the same symptoms you do, but no one has ever explained why.
PLEASE tell me, what was the diagnosis that unlocked your mystery?
1
Thank heaven for doctors who pay attention. And thank heaven for doctors who listen to the answers rather than interrupting. We need more medical personnel who pay attention rather than reacting or pushing drugs. Listening is one of the most important skills any person working with patients can have.
19
@hen3ry Wait. Did we read the same article? The doctors never heard her talk about the canker sores, because she never mentioned them; and the disease she has, tho' common in Turkey and a few other places, is rare in the US. It was her mother who ignored her description of the symptom. The specialist asked her about them, and they acted on her answer to their question. And they treated the problem with drugs.
3
Behcets also causes a multitude of Neurologic - hematologic manifestations with minimal dermatological signs. Protean, unrecognized but likely more common than realized.
3
Many people here commented on the short time most doctors allow patients....yes, and getting shorter.
Please know: it is mandated by the hospital corporations or insurance companies that "own" those doctors, not their own choice.
We must have some form of universal health care to provide for all citizens, as all developed countries in the world have, to surmount these growing problems.
Medical bankruptcies are the leading cause of bankruptcy, and people are pushed into poverty by greedy hospitals and clinics who are concerned only about the "bottom line". It costs about $1 million dollars to survive a bad car accident which has led to intensive care, surgeries, and rehab. Ditto cancer and other relatively common conditions. Our system is BROKEN.
from a retired RN with 30+ years of experience.
57
@RLiss
With universal care, you do not get more time with doctors. On the contrary, you get less time and have less recourse to insist on seeking treatment. No specialist will see you without a referral, regardless of how much money you have.
I say this as a Canadian with extensive experience with the healthcare system.
The leading cause of bankruptcy is people not being able to work so they can pay their bills. Medical bankruptcy happens to sick people everywhere, regardless of the healthcare system.
4
Hooray for the doctor that actually took the time to ask a lot of questions and really cared to find out what was causing the “heart attacks”. So many doctors just prescribe a pill and send them home without actually fixing the problem. Or worse, scheduling a surgery that makes the patient even worse and calling it good.
10
@Mshoop The doctors looked for a cause, couldn't find one, and treated the symptoms as a best they could; and she was sent to other specialists who did find the cause, and then treated the symptoms, too, because there is no known cure.
4
This is the essence of every scientific breakthrough.
To get the correct answer: "whats the cause of ..."
You need to ask the correct question.
Then the answer is found to be apparent all the while.
4
Very cool diagnosis.
4
A well-designed expert system could be coded into software someday to allow patients to diagnose themselves at home.
6
FOLIC ACID Works too: My dad and I have gotten canker sores our whole lives we've discovered folic acid works wonders to keep them away and heal them faster when they start. It seems like 800mcg daily helps to prevent and about 3 - to 6 800mcg daily helps to heal them faster.
8
@Kristina In this case the canker sores were a symptom of a more deadly condition. Treating the sores would not solve the underlying dangerous condition.
2
Canker sores? I got them all my life until I started eating yogurt. End of problem. Lucky me.
8
That’s because you don’t have Behcet’s
5
AI will eliminate medical mysteries.
If the time comes, give me a youthful surgeon and an elderly diagnostician.
29
I am surprised that the doctors didn’t see the sores. I thought one of the first thing the doctor asks you to do is open your mouth and say ‘aaah’.
6
The moral here is to never ignore the bloody obvious, no matter how unrelated it may seem.
4
Atherosclerosis is an inflammatory disease. Any chronic inflammation can contribute to it. The immune system gets triggered by a signal and attacks the vessel.
See letswakeupfolks.blogspot .com-Heart attacks and strokes for details and what helps to prevent this.
1
Myocardial infarction with normal coronaries should place coronary spasm at the top of the list of possible causes, regardless of any background medical problem.
12
So there was this world famous medical clinic in Switzerland .....
And one day the top doctor in the place called three of his patients into his office for a meeting.
One was an Englishman, one was French and the other was a Jewish guy from Cleveland.
And the doctor said: "I have bad news and good news for all of you."
"The bad news is I have evaluated your cases thoroughly and unfortunately there is nothing more I can do to help you. All of you will die within a month."
"The good news is that I can grant each of you one wish and this can be anything you desire."
Hearing this, the Englishman immediately began to describe a month-long series of elaborate meals that he wished to have prepared for him by the most famous chefs in Europe.
Not to be outdone, the Frenchman asked that the ten most beautiful women in Europe be brought to the clinic so that he might be suitably entertained in the last month of his life.
Finally, the doctor turned to his Jewish patient from Cleveland and asked, "And what sir, may I do for you?
To which the Jewish man replied, "Well to tell you the truth, I'd like to see another doctor."
27
This story, like others in the series, illustrates why there must be an international database that intelligent physicians can use to help identify diseases that stump them.
Stupid and/or arrogant physicians won't bother.
6
I had a coronary artery spasm in my early 40s, nearly 25 years ago. It was exactly as described in the 3rd paragraph of this article. The cardiologists could offer no explanation. Haven't had anything like it since. In my annual well physical exam this week the general practitioner MD said my heart sounded great.
5
I have Behcet's, which has very nearly killed me -- twice.
I've always been athletic; played various contact sports competitively. Over 15 years ago, I hurt my knee and needed surgery. Shortly thereafter I developed a pulmonary embolism. I was told this happens sometimes, treated with anticoagulants for months, and survived; but no cause was identified. Then 5 years ago, I broke a rib. Within days I developed a general malaise, headaches, and a recurrent fever that would spike alarmingly high daily. Night sweats followed and my condition deteriorated quickly.
Over a period of 9 months, I was seem by 10 doctors and tested for every infectious disease, inconclusively. Then a cardiologist suggested an echocardiogram. A large mass was found in my heart. This was thought to be a cardiac tumor (hence, the theory went) the night sweats etc. I underwent open heart surgery and the mass was excised. It was completely benign; a clump of thrombus and connective tissue attached to the apex of the right ventricle. Still no cause, no diagnosis.
A week after surgery the fevers continued, even worsened. It was only at this point that I was seen by a rheumatologist who took a detailed history, noted the mouth ulcers I'd had for decades, and found further evidence for Behcet's in a small aortic aneurism observed during my cardiac surgery. Today, I am doing well on medication. I stay away from contact sports though. It appears that my Behcet’s is flared by physical injury.
180
My mother had severe canker sores, and I as a child. Treated with Alum in the 50's.
Mother also had Angina all her life, treated with nitroglycerin for 60 years. Many stents late in life. She lived to 95
I no longer get canker sores, but do have high levels of inflammation, 3 heart attacks, one stent and noticing more chest pain age 69. RA and severe Glaucoma.
I need to print this story and talk to a few Doctors...
Thank you!
281
@Lost In America While not diagnosed myself and with much lower intensity, but similar, symptoms, I accidentally found that while using anti-fungals like sporanox, to treat my nail problems, it completely cleared these symptoms, which then gradually return after stopping. My doctor doesn't understand it, but the demonstrable loss of these symptoms during each of 3 courses with years between and their gradual return does give him pause.
6
I also have Behcet's. I'm 58, I've suffered with symptoms since a teenager and just got diagnosed 3 years ago. I went to a dermatologist for the rashes, gynecologist for the sores, dentist for the mouth sores, Rheumatologist for the aches. No one ever put the pieces together. I finally saw Dr. Paula Rackoff at NYU Langone Rheumatology and she had me diagnosed in about 3 minutes. All those years of suffering....
405
Don't you wish they would work in unison ?
10
This patient's story illustrates three characteristics of fine doctors: 1) first and foremost, a concern for the patient's well being, 2) a deep and wide knowledge base, and 3) a keen curiosity that leads them to continue searching in unusual and/or complex cases. This woman was lucky to have been treated by physicians who had all three in spades.
414
@DG Exactly! The late Dr. Don Seldin, father of UT Southwestern Medical School in Dallas, used to say "If you don't know (remember) the disease, you will never make the diagnosis!".
Too many physicians abandon chunks of their learning when they specialize. Even with elite specialists involved, it took three of them to wrap up the diagnosis and provide complete treatment. Success was achieved because these physicians at least recognized what they did not know and made sure the patient saw someone else.
20
@DG I didn't read anything here that indicated any of the physicians didn't care about their patient (1). And the physician who made the Dx was a rheumatologist, so a physician who had a highly specialized, deep knowledge base in his/her specialty (2).
But I have most my life thought that it's invaluable if a physician has known a patent for a long-time, and gives H&P as much emphasis as any technology.
10
Two things stand out in this fascinating case: the importance of physicians listening carefully and asking lots of questions, and the importance of patients not editing their symptoms.
481
@Hortencia
Yes, the patient has to list all the symptoms but equally important for the physician to listen. Wonder if software with AI and deep learning can help doctors diagnose rare cases like this.
55
@Hortencia
Yes. But 99% of physicians would be exasperated and impatient if a patient mentioned canker sores when her primary issue was angina.
262
@Hortencia I completely agree. The best providers listen carefully and look for a diagnosis that includes the various and sometimes apparently unrelated symptoms. Too often, however, the provider with too little time or inclination will ignore some symptoms that do not seem to fit in the effort to come up with a diagnosis. Key here was the interest and willingness to refer to others who may have greater expertise.
70
My 55-year-old brother died suddenly and unexpectedly a few months ago. Four days previously, he had been in the emergency room complaining of pain in his legs and back, shortness of breath, and other textbook symptoms of deep vein thrombosis resulting in the massive pulmonary embolism that killed him. The ER staff completely misdiagnosed him and offered no treatment of any kind. They sent him home to take Tylenol and use a heating pad.
The author presents an amazing success story, but for every good outcome like this, how many unnecessary deaths occur due to misdiagnosis? The quality of medical care is especially bad in rural areas and small towns, where my family all live.
26
I know 2 men within this past year who were sent home multiple times with a DVT that could have killed or disabled them. For some reason the doctor was reluctant to run a relatively inexpensive D-dimer test. One of these men had to return 4 times before his complaints were taken seriously. On the fourth visit, he begged the ER doctor to not send him home until she confirmed a diagnosis.
As your brothers case shows, they are lucky to be alive. Market forces can’t be expected to lead to good healthcare outcomes.
I am sorry for your loss.
26
@Miss Dovey I understand. My husband was misdiagnosed with "back strain" by 3 doctors before he was diagnosed in the ER with 3 collapsed vertebrae caused by multiple myeloma. It seems that doctors listen for one keyword and then diagnose the most common cause of that keyword.
16
@Miss Dovey I was misdiagnosed three times when I had a rare, life-threatening respiratory disease. I finally got diagnosed when I was applying to participate in a severe asthma project (asthma was one of three diagnosis). The leader of that project at UCSF almost immediately diagnosed me with "popcorn lung", for which the only treatment is lung transplant, which I received a year later. I think it is important that I found a researcher, which I believe tend to think out-of-the-box more consistently. Nevertheless I do have sympathy for phyiscians who misdiagnose. For many people, misdiagnosis is an outrage and affront, but I believe the real medical miracle is how regularly a correct diagnosis is made. The body is very tricky and complex after all.
18
I’m glad to see competent, thorough physicians getting to a diagnosis for once!
I’m an American born, American trained infectious diseases doctor who for personal reasons made his career in Australia. I’ve long suspected that, on average, Australian specialists are better diagnosticians, more broadly knowledgeable and more systematic than their American counterparts, and Dr Sanders’s Netflix series “Diagnosis” confirmed it for me. I was literally shouting at the TV, enraged by hapless medical care so many patients in the American heartland seem to be exposed to.
This case is a counter example - although we should recognize that the patient had to be given a transcontinental referral and have the resources to travel interstate for multiple consultations. Another Arizonan with coronary artery Behcet’s might never have received a diagnosis and died as a result.
Let no one tell you that America has the highest quality medical care in the world. It simply isn’t true.
48
@Aaron Walton I'm US trained Acute Care physician working in New Zealand. I work with physicians trained in NZ, Australia, the UK and the US. I find the same diagnostic laziness here amongst some of my colleagues, though interestingly not the US trained ones. I think overall there are just doctors who are driven to diagnosis and those who aren't, and these are found everywhere. And, I think it has to do with a combination of personal attributes and individual training experience. This patient would have been diagnosed under my service since Bechet's was on my differential at "MI with clear coronaries." But that wouldn't be the case with all of my colleagues. I try to push my trainees to understand that the primary job of the Inpatient General Medicine doctor is diagnosis and you should not rest until you have one, and once you have one you should constantly review to make sure it is correct, but not everyone has the personality for it. Sometimes the trainee kind of just shrugs their shoulders, leaving me dismayed.
25
The nail fungus observation is fascinating - something that may also be associated with fungus in the body - which is in turn associated with gut dysbiosis. Gut dysbiosis is associated with inflammation, leaky gut, and autoimmune. As always, there is more to this than meets the eye.
This begs the question: Does nail fungus come before gut dysbiosis and inflammation or vice versa? If we heal nail fungus (cures generally don't work), will this help heal the whole body? These are interesting and perhaps vital questions that need serious attention by the medical community.
13
@Tim Bachmann
My bet would be that nail fungus comes after gut dysbiosis, not before.
The depletion of good bacteria (as would occur after ingesting antibiotics for an unrelated infection) is usually correlated with yeast infections in women.
Taking probiotic supplements and drinking "raw" fermented drinks usually clears up the yeast infection. Taking Monistat without addressing the underlying issue usually results in recurrence.
The benefits of probiotics has been known for a long time in Eastern cultures. It was (and possibly still is) standard practice for doctors prescribing antibiotics to recommend to their patients that they also increase their uptake of brine, unflavored yoghurt, kombucha, etc. to maintain gut flora.
4
@Tim Bachmann This is not precisely true. If you a low-level celiac issue, the inflammation can occasionally leak into your joints and trigger rheumatoid arthritis or similar pain symptoms. However many people have RA who do not have any inflammation of the gut.
1
@Tim Bachmann My podiatrist who was treating my foot wart, says that most of these persevering foot problems are due to an impaired immune system. So, looks like we can take it as a sign to improve and heal our digestive system, and, in my case, stay out of salons for pedicures!
9
To those readers who critique all of the missed diagnoses:
Medicine is both science and art. The human body is a complex balance between genetics and environment. And it makes pragmatic sense to "think horses, not zebras". Physicians and other health care professionals dedicate many years to understanding and treating people, often despite very restrictive time for analytic discussions. Think: why would a cardiologist have any reason to ask about cold sores? And why would anyone think about telling a cardiologist about cold sores? Even if a physician could dedicate 2 hours to a patient interview, that would likely never have been raised. So please, stop bashing physicians for what they have not diagnosed and be grateful for the advances they have achieved while they look to continue!
It seems that there is an opening for a new specialty that includes extensive use of AI. When a patient has a persistent or intermittent symptom that is unexplained even if it's not life threatening (such as frequent cold sores-that's not the "norm" as defined by population statistics), such a specialist could provide an astronomical increase in knowledge of the human condition.
26
@Sue
Not cold sores. Canker sores. Big difference.
12
Doctors are taught to think in silos and it's rare to find one who takes the time to stay up-to-date with the latest research, not just in their own narrow field, but in other fields.
But worse than that is the tendency of doctors everywhere to misdiagnose physical symptoms as emotional disorders, and this is particularly true of women patients. Doctors assume that people don't know their own bodies, and this can lead to misdiagnosis and even death.
I know several women who spent years being told by doctors that their symptoms were "all in their heads" only to later (sometimes much later) be diagnosed with autoimmune disorders, thyroid disease and, in one particularly egregious instance, terminal stomach cancer (in the latter instance my friend was told she was anorexic and that was causing her inability to eat).
24
@LauraF
Doctors are not "taught to think in silos"! For pragmatic reasons, they do consider the obvious, the common, and the theoretically reasonable before considering the unusual. And until there is a mechanism to devote the time to explore the "outliers", that is the way it is.
And as a woman, I am acutely aware of the the reality that most "norms" are based on research done historically on white males of European ethnicity, which unfortunately hinders the range of what is "obvious, common, or theoretically reasonable". It has changed in recent years, but the numbers aren't there yet to change the concept of "obvious, common, or theoretically reasonable".
10
@LauraF
Exactly. The misguided emphasis on "mental health" often leads to dismissing symptoms. This is especially prevalent in (elderly and often religious) female doctors.
You would not believe the heinous and misogynistic statements I had to stoically withstand from my (Muslim) oncologist. Anything but a polite response prompts the accusation that you're mentally ill, because look how angry and emotional you're getting!
3
I don’t understand your comment. She had heart attacks. She was not told that her chest pain was “in her head”. She has a rare condition which was eventually diagnosed when she saw a specialist. How was her treatment biased because she is female? Are your biases showing here?
4
It’s amazing how a simple question from a doctor can make such a huge impact on a patient’s diagnosis.
I went through a similar experience with a chronic health issue. It was a specialist who asked me a question within the first five minutes of my visit, and she solved the whole mystery that had plagued me for years.
Bravo to all the doctors who are experts in their field.
40
I'm kind of in shock right now. In a good way.
I had a "heart attack" in February (on Valentine's Day, ha!) that had no apparent cause -- cardiac cath cardiac MRI, stress test, lipids, blood pressure, all came back normal. It remains undiagnosed.
I've had canker sores my entire life. I've had recurring skin sores on both of my shins for my entire life -- as a kid I was told it was potentially "lichen planus" and an immune disorder, but again, basically undiagnosed.
I have and have had several other symptoms as well. I never saw them as being connected. I'd also never heard of Bechet's before reading this article.
I'm going to visit my Doctor and am going to look into this. I feel so much better, knowing that many of these ongoing health issues I've dealt with my whole life may in fact be connected. Thankfully, if I do have Bechet's, it sounds like I have a relatively mild case -- although if the "heart attack" was related, I guess maybe not so mild, under some circumstances (I had been exercising very strenuously when it occurred).
Thank you New York Times for giving me some valuable information today!
129
@Nick Gold Good luck to you at the doctor, and have a great holiday season and New Year! The NYT rocks.
13
“Bairey Merz noted the fact that the patient for a long time had a discolored nail, which was thought to be a sign of psoriasis, an inflammatory condition.”
I was interested in this fact: the long-time discolored nail as a) a symptom of psoriasis b) and, psoriasis as inflammatory condition.
I think about the scourge of toenail fungus that many of us have had since childhood. Something that’s typically addressed as an external issue: could it be another sleeping dragon of autoimmune disease waiting to manifest itself as a heart attack or even a brain tumor?
It seems like every day there’s something new about how “inflammation “ in our bodies, especially that caused by the food, or our food- deficiencies, is now considered the main culprit in a vast array of diseases including cardiovascular disease.
This is such a great article. It raises such important questions about health, and helps us revisit so much that we were told, or we, ourselves,came to disregard when our bodies were speaking to us. Sometimes softly, sometimes loudly. It’s time to listen. I’m listening more because of this article. Thank you.
35
The key is to find a physician actually interested in the difficulty you are experiencing. This is usually not the harried primary care doctor with their head in the computer trying to get through the 50 patients on the schedule as dictated by their employer. In this instance it is a physician who realizes cardiovascular disease is not one size fits all and who doesn’t make a living doing cardiac caths and stents on everything that walks through the door. It’s not a big jump from “no blockage” to vasculitis and vasospasm related to any one of a number of underlying rheumatologic/connective tissue disorders that may damage the heart, brain and multiple other organ systems. This is more about a woefully missed diagnosis than the Einstein level brilliance or Sister Teresa level compassion of the physicians who came up with the answer. As a parting note, Humira has a side effects list longer than your arm (watch a commercial), she still needs nitroglycerin...but does have less mouth ulcers and feels better...and has a name for the problem and some idea about what to expect in the long term.
40
@ET Humira doesn't have a list of side effects longer than any other medicine nor longer than herbal medicines. If something is effective is effects the body. There are specific areas in which one must be careful. Others that may simply be the result of having that condition. These biologics sound scary but I can tell you as a user they are effective and do less damage than inflammatory diseases left to run amok.
4
@ET
"The key is to find a physician actually interested in the difficulty you are experiencing."
Indeed!!! My fibromyalgia went undiagnosed for 15 years, after 20+ doctors and dozens of lab visits. And these were the top doctors in my area, as I'm lucky enough to have an excellent health insurance.
Many doctors have lost the ability (sometimes induced by HMO time restrictions) to listen to and examinate the patient.
If you find a doctor that does listen, treasure him/her!!! I should know, I've found mine!!!
5
I'm glad they found something that works for her.
But using adalimumab is like burning down the forest to get rid of some poison oak. It's an extremely potent immunosuppressant with long-term adverse effects (and also the most profitable drug in history, particularly after doubling in price in eacho the three years leading up to its patent expiration in 2016, which has effectively been stayed by multiple licensing agreements deferring generic competition until 2023).
I hope we'll soon treat these immune-suppressing drugs as a short-term fix, as we develop other more tailored drugs and after we learn to identify specific mechanisms.
In this case, even if a drug works and the patient is relieved, I hope the doctors continue to search for signs/symptoms of an underlying mechanism and for more safe and effective therapy. There are many regimes used today for Behcet's.
30
@we Tp :
also , why are pharmaceutical companies allowed to ratchet up prices for no reason at any time?
Look at what is now happening with the old standby, Insulin, as one example. Or EpiPens, needed by those with anaphylactic shock issues if stung by a bee or wasp, for example. Long time meds, now highly increased price for no reason by profit by company.
17
@we Tp For those of us with autoimmune diseases, drugs in this class are often the only things our body will respond to, or the only thing keeping our disease from progressing and disabling us. I agree: I hope research continues. These exact same drugs are not as expensive in other countries. Hmmm, could it be their healthcare systems are actually working?
17
@we Tp
But that is precisely what the biologics are, very tailored drugs to the specific mechanism as opposed to the wider scattershot approach of the past.
5
Adalimubab is not a treatment for Behcet's Disease -- just to clarify. This does not mean it is not used for Behcet's Disease. It modulates the bodies immune system to reduce inflammation, for any kind of medical condition in which inflammation is a problem. It does not address the underlying cause of the inflammation nor does it cure Behcet's or any other inflammatory condition for which it is medically indicated. As I mentioned in a previous post, the etiology of Behcet's has not been clarified, but because of its epidemiological pattern and familiar symptomatology, I suspect it is due to a virus. Modern medicine has few effective anti-viral medicines. Moreover, the virus may not be the ultimate problem, as much as a susceptibility to the virus that could be caused by some environmental factor, possibly dietary or toxic, that weakens the immune system and is indigenous to central Asia.
34
@Samantha Technically, there has never been any medication specifically licensed for Behcet's, at least not until mid 2018 when Otezla (apremilast) passed Phase 3 trials and was FDA and EMA approved for mouth sores of Behcet's
Other than that, it is tons of "Devil's Tic Tacs" (prednisone pills and immune modulating therapies borrowed from other Rheumatologic/Dermatologic/Gastrointestinal disorders.
Colchicine, Imuran, Humira, Remicade, IVIG, Thalomid are names of drugs that have helped some Behcet's patients.
My wife has all sorts of symptoms related to inflammation, but no overall diagnosis. Each problem is diagnosed and treated individually, even though a general pattern is obvious.
I'm going to send her to a rheumatologist next. Maybe that person can unravel the underlying problem instead of playing whack-a-mole with individual symptoms.
33
Transfer Factor saved our son from going blind, for he was diagnosed with Behcet's at 14. We had three great doctors who were involved in saving his sight, helping to sustain him in school, and in growing normally. At 17 while he was in college, it became more serious, and he was put on Corrambusil which finally cured him of the disease. Dr. Mendelsohn was the lynch pin in teaching us to consult doctors who had written the definitive descriptions of the disease in medical encyclopedias.We had already been fortunate in consulting Dr. Tessler at the Univ. Illinois, Chicago & but the encyclopedia search led us to the Einstein Institute of Eye and Ear, and from there to Dr. Bernard at the Rheumatic Diseases Center in Milwaukee. Dr. Bernard concluded my husband was the genetic carrier of the disease, for he'd had cold cores as a child. His immune system had fought Behcet's off and so his immune system was used in the "Transfer Factor treatment. That journey was tough for a teen who stayed on the honor role throughout school and took shots in the eye when he lost vision in one of the eyes.
In the time that followed, Dr. Tessler and Dr. Bernard connected through our experience with 'Transfer Factor' and Tessler started send his Behcet's patients there.
Today our son is 54, and does experience body aches, but he's had an almost normal childhood.
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@NM Chlorambucil
1
@Zendr
Thanks.
Oh my. This is the most informative article I've ever read about what may well be the underlying cause of many of my medical problems over the years. I've had most of the symptoms. I won't list them all but what stands out is the two heart episodes several years apart that were not heart attacks, though there were classic HA symptoms which led to heart catheterizations each time. My heart continues to be diagnosed as fine, though I have had several additional ER visits for chest pain. With this information in hand when I see my cardiologist next month, perhaps it's time to see a rheumatologist.
22
That she was able to find a doctor who would even bother to think about solving the problem, much less dive deep into her life history, not just her medical history, is remarkable - a miracle. I've had exactly one doctor like that, he's no longer in New York, and he was a total outlaw - played by nobody's rules, but he helped me with critical health issues and I didn't care, in fact I celebrated his nonconformity and so did my health.
Unfortunately, today I see a rheumatologist, a cardiologist and an endocrinologist, and all they do is monitor my tests. No curiosity about my never-ending fatigue, muscle and joint aches - just "wait and see." Wait for what? For any of my conditions to worsen and become critical?
Our bodies are systems and everything affects the system. Too many doctors just can't be bothered - at least that's been my experience.
So, thank you for this revealing article. Please publish more stories like this - they can really help and even save lives.
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@MAW
I am sorry that you have ongoing health issues that your physicians just seem to be "monitoring". What would you have them do? They do not have a diagnosis that is helpful to you, so all they can do is ensure that your symptoms do not reflect a life threatening situation.
Physicians are not gods; they only know what they know and do the best they can.
You, however, have the option to pursue other physicians that you believe may be able to offer a new perspective on your health issues. I would suggest you obtain an independent opinion from someone who has not yet evaluated your medical records (although you should have them transferred after the consultation). And depending on your health insurance, you may need to pay out of pocket...as you would also even in the much maligned "socialized medicine" systems.
Good article & very informative. I am going to forward to my kids & relatives and friends. NY Times I thank you very much.
11
Rheumatologists, endocrinologists and infectious disease specialists are 3 types of specialists I have great admiration for. They are true puzzle-solvers and do a lot of deep thinking and pondering what might be making someone ill. (Thinking which, by the way, is not well-rewarded by our current system of medical reimbursement.) And yes, they ask a lot of questions!
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@JenD
I have found most endocrinologists to be utterly hide-bound and stuck in the research of many years ago. No new ideas, and they scoff at anything the patient might say. Personal experience tells me that the vast majority of specialists, in general, think of themselves as gods and their patients as grovelling penitents.
4
I have over 30 years experience in the Biomedical and IT field. The week Jeopardy had Watson on, I could only think about the positive impact this this AI would have on diagnostics, both medical and non medical.
Seems to me that technology like Watson could be that second or third opinion that would level the playing field. Watson would not make the decision, just make Healthcare professionals aware of things they may not have considered.
But to my disappointment, Watson seems to be gaining more traction in the financial sector.
29
This is why physicians need to be taught to apply the basic biologic sciences such as physiology, anatomy and biochemistry to their practices. Too often, doctors are like computer programs. You feed in a symptom--in this case chest pain--and you spit out an algorithm that works 98% of the time. What I call "left brain thinking."
Diagnosis is more accurate if the doctors use their right brains. Visualize the person as a whole body, place the symptom in the context of this particular whole body (not the 98 other whole bodies that you are used to seeing with this symptom) and then ask yourself "How does this body generate this symptom?" Yes, it takes a little longer to do. But you and the patient will be rewarded with a better outcome
38
@McCamy Taylor
I would say that what you are describing is listening skills. As a nurse practitioner we were taught that a significant portion of our diagnoses could be determined by actively listening to the patient. A five minute visit does not allow for this. Shotgun treatments aren't sufficient.
19
@ExPatMX
We medical students were also taught that 90% of diagnoses are made on the history, with the physical examination confirming. But that means the whole history, and as you note, that's not going to be obtained in 5 minutes.
10
We lack systematic medical care in this country. We should not have to wait years, if ever, for a doctor to properly diagnose our medical problems. iI we ever do find them we call them geniuses and exceptional. This is the result of our system that caters to independent doctors instead of patients. Medical diagnosis should not be ad-hoc educated guess work. Instead, it should follow uniform procedures that can be maintained and improved over time. Had this been done somewhere down the lists of tests and questions would have been the canker sores. Any doctor would have been able to get to the correct diagnosis.
12
@Tom Kocis
"Instead, it should follow uniform procedures that can be maintained and improved over time."
That's the way things work now---chest pain-->EKG-->enzymes-->cath lab. There is no uniform procedure for "any doctor to get to the correct diagnosis".
The whole point of this article is that it's not easy to diagnose unusual conditions, especially conditions that mimic other conditions. There's no way to diagnose these without time and thoughtfulness, which is difficult to do. It's easy to critisize doctors, but you need to remember that common things are common, and rare things are rare, so you're unlikely to get a correct diagnosis of unusual conditions right away.
18
I am no expert on Behcet's disease, but I have some knowledge of medical epidemiology from my training as a physician. I believe Behcet's may be due to a virus indigenous to the region along the Silk Road, where Behcet observed it to occur. The fact that it occurred across a region known for commercial activity suggests a communicable aspect, and the genital ulcers and aphthae are known symptoms of viral infections. Even herpes virus can affect the eyes as well as the genital area and herpes simplex can produce canker sores (aka aphthous ulcers). Behcet's Disease, like so many medical diagnoses, is most likely just a name for familiar processes that medical science has not yet come to understand. The sad and unfortunate thing is that many come to believe that the answer to their health problems is a diagnosis, such as Behcet's, Lupus, Hashimoto's, Rheumatoid Arthritis or other, when in fact these diagnoses belie the basic lack of understanding of what is actually going on pathologically inside the body.
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@Samantha Canker sores (apthous ulcers) are not the same as cold sores caused by herpes although there is a lot of confusion on that point. I've had canker sores throughout my life. They are not enjoyable but are easily controlled by an anti-inflammatory gel.
@Samantha Do you realize that Behcet's occurs around the world, including Japan, Korea, and Scandinavia, in people with little to no connection to Turkey?
That it is more prevalent in North America in people with no connection to Silk Road countries?
There is more evidence for HLA-B51 and even for Periodic Fever Syndrome being associated with Behcet's than there is for organisms.
1
These medical discovery stories are exciting and, particularly, wonderful to read when the problem is solved as in this case. While the doctors involved are often called diagnosticians, I call them true detectives. It comes down to the same thing: they are problem solvers. When it concerns making a person better, it seems more sensational than solving a murder or fixing a car, but most problem solvers in all fields make our lives better. Thank you.
31
Your articles are always of great interest. I hope you will continue with them for a long time!! Thanks for your efforts!
36
Was wondering considering inflammation is main ingredient here, if fish oils could help? FO has shown to lower pro-inflammation. Just a thought
6
@Anoop :
sorry if I sound snide here but , yes, ask the guy with the H.S. who is making a living on commission at the Health Food store for advice. Not one of those dumb old doctors.
Fascinating article of off-the-wall diagnostics via Dr. "V," with a lucky patient at severe risk. The same phenomena probably took her father at 36 -- yes, a red flag for sure (another wonder of genetics) but who woulda thunk? Human animals with our ten-trillion, or whatever, cells, are such complex creations, or evolutions -- not all maladies can be diagnosed over time as 8 billion of us meander through life with our various physical annoyances. You can't blame the docs, no matter her health care situation -- she had cankers as a kid -- we all did -- who would think, except for Dr. "V," (fortunately a mid-easterner with local knowledge) that the terminal, Istanbul -- Constantinople -- on the old silk route, brought along this (Oriental?) malady. So Marco himself, swathed in silk, cankers afire, may have been the first vector? I'm continually amazed at most everything...
16
@capnbilly Dr. V. is originally from Mumbai, India, so not a "mid-eastener", but a great, inquisitive and kind doctor.
1
Cases like this demonstrate that we need more artificial intelligence in medicine.
10
@Norah Astorgah
So many symptoms are so generic that they could be present in hundreds of medical issues. AI will help but it is not a panacea. Actively listening to the client and exploring what she/he says is essential. Having time to ask the right questions leads to successful diagnoses when you have a zebra instead of the expected horse for a disease.
5
@Norah Astorgah: Really? So that a machine will spit out a list of every possible disease that has a certain symptom?
What we need are more doctors who have their brains fully "plugged in," as this cardiologist and rheumatologist do.
1
@Norah Astorgah :
AI is programmed by humans.....it depends on what the human doing the programming knows or has experience with. NOT a panacea for medical problems of this complexity.
To be honest, what this suggests to me is that many physicians today are simply inexperience, and probably undereducated. They have opted to go in to medicine for the money, have specialized in that "thing", and beyond that knowledge (which may not be very deep beyond the procedural "fix" or, more likely, screening), they are fairly incompetent.
It's like yoga instructors, of which I was once one: most are folks who have practiced for a year or so. Not much experience, and the training, while it differs from studio to studio, is survey-like, giving some basic info, and then a 'diploma'. Put it another way: how many folks have you met who *failed* to become a certified yoga instructor? My guess is 'not one'. No one fails.
With physicians, one would hope there is a failure rate, and that it is high, but my guess is it is just like PhD training ("training") here in the USA: so very few fail because education, and medicine, is no longer about education, medicine, much less Public Good.
It is about money. Profit. Helping is secondary, and curing, well, there's no profit in that.
Yet, it was good to read about someone who was helped, finally.
18
As a physician myself, I think it may be more due to lack of time than lack of knowledge. All of us were taught about Behçet’s disease in medical school, but in order to think about a diagnosis like that and ask the relevant questions you need to have enough time for your brain to spin theories while you’re seeing the patient. Nowadays, our time with a patient is typically spent wrestling with a computer program that asks us to document all sorts of things which, at that moment, are generally not relevant to either us or the patient.
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@Michael my physician is allowed 20 minutes to talk to me about the problem that brings me in... he has figured out that because I’m triple covered that he can justify more time and as such has made my quality of life and my wife’s great.... we drive 850 miles to see him every 6 months but we can go more often if required. I know most folks aren’t as lucky as we are but we planned for this just in case and people used to tell me I was crazy. They don’t do that now that their insurance is thru the roof and the deductible is astronomical
14
@Michael
I appreciate your comments.
1
My sister, born in Africa, died of Behcet’s complications at 62. There are other manifestations of Behcet’s not mentioned by the author: arthropathic and neurological, and she had all three. No one had been able to recognize the canker symptoms, so she researched on line and found her diagnosis, then went to a rheumatologist who confirmed it. He referred her to a dermatologist specializing in Behcet’s and he helped her bring it under control, but it took a while for specialists to recognize the other manifestations and begin to treat her for all. I hope that all those who treat or who have Behcet’s will exercise my sister’s diligence and keep looking for all ways it can affect each individual. Perhaps others can avoid the unremitting pain she lived with and perhaps some day a cure can be found.
83
I would like to add that it was because the Doctors Collaborated that the patient's condition was identified and she was successfully treated. Collaboration is the key to so many successful outcomes. We all share pieces that together can lead to breakthroughs, successful services, better manufacturing practices, safer products, a cleaner environment. Let's 'Get it together'! If we had models of collaboration for business we might all have a happier future.
63
@Intelligent Life That's if your 10 min Doc has the time to ask you questions. my out-of-pocket for visiting Dr. V out of state with excellent insurance was still $325 it was money well spent. Because it was a full hour if consultation.
17
@Intelligent Life
There are models out there, like national registries that are accessible to all physicians. Yes, there need to be safeguards but guess what: if there were national healthcare in place, there would be no fear of losing one's insurance because it cannot be taken away.
But let's just stick to the good ole USA mode of healthcare and insurance, the one that's profitable for the few, and relatively inefficient and crazy expensive for the many. Gotta keep that unrestricted capitalism afloat!
33
@Intelligent Life
Doctor, eh? I'm shopping for one again, since at the corporate practices I've been to since 2005, I've seen just RNPs. Haven't even met the name on the door.
It's nothing against RCNPs, just the hope they can communicate my descriptions and symptoms reasonably well, if at all, or if a physician ever reviews the computer notes.
I hope I haven't needed follow-ups for the two tests that showed problems for which I take medications the druggists call for when necessary.
I haven't heard from them, so I guess my insurance is paying on time.
4
The father dying at the young age of 36 should have triggered every physician that treated this woman to dig deeper.
Behcet's isn't classically associated with heart attacks though.
Reminds me of Reiter's disease, the classic triad of reactive arthritides that medical students memorize for their board exams- can't dance, can't pee, can't see- or numerous similar variants. From the arthritis, ulcers on the urethra, and conjunctivitis, respectively.
Usually these cases involve an astute general practitioner taking a detailed history and clinching the diagnosis when the specialists have failed to see the forest for the trees from their confining boxes. Here we have one where the specialists probed further and asked the unusual questions that led to the proper solution.
But apart from the canker sores, the giveaway that absolutely should not have been missed was the patient's father dying of a fatal heart attack at the age of 36. That just doesn't happen absent a genetic predisposition such as severe hypercholesterolemia, abnormal cardiac anatomy, or in this case Behcet's.
57
@telemachus sneezed. YES, what you said in your first and last paragraphs about father'a death at 36 yo.
2
"She heard the clipped, crackly syntax of walkie-talkie’d instructions."
"Bairey Merz radiated a brisk no-nonsense competence."
This was an informative and helpful article. But these two quotations also show the wonderful art of descriptive writing. These words, as just two of many examples, really helped dimensionalize the story.
45
It’s a little too facile for many commentators to fall back on the tired trope that all sorts of doctors blew the diagnosis for various reasons, too busy, blinders on, too ignorant etc.
I’ve seen over 250k patients under my care one way or the other over 40 years. Although we all studied Behcets in MED school, neither I or my colleagues have (knowingly) seen or know anyone who has seen anyone with this disease. Chest pain is a staple of our practice.
Some extremely rare disease patterns stick with you and you recognize it the first time you encounter it. However, if you have no experience with a rare disease other then reading about it for a MED school exam, you will not know the 5th level probing questions to ask, as you simply can’t keep that much pattern recognition information in your brain to recognize all 5k rare conditions and their many variations of presentation.
96
@Garbolity I believe you have hit upon the entire gist of this NY Times feature, sir.
26
@Garbolity that's why I believe that Doctors need more time. I've come in with the WebMD and I've gone through all the various conditions I thought I could possibly have before landing on sle lupus and ending up and Doctor V's office. Prior to that I would go to appointments look over their shoulder and see that they were on WebMD!! That's why I started prepping and coming prepared to work through possible scenarios with medical professionals. Sometimes I was met with Glee but usually I was met with the who are you? Doctor shopping??? As opposed to wondering why I was so desperately looking for a diagnosis, not medications.
37
@Garbolity Also? Women having HA's do not present the way men do, almost ever. Did you learn that in med school? B/c the physicians in *my* family didn't seem to and it's the one thing, albeit the most critical thing, that kills women (vs. men, who, when they present in an ER or to an EMT with classic HA symptoms, almost always get full workups -- whereas women are sent home as having had a panic attack, pinched nerve, or similar).
We have a lot more work to do, and the number one thing for me is that docs need to spend more time with their patients (which is the fault of bean-counters, more than anything), and that they also need to realize that men and women ARE different with respect to how disease manifests in our bodies, our tolerance of pain/discomfort, and our ability to feel seen/heard when we see our docs.
51
Yet every healthcare provider and insurer presses for shorter visits, with increasing time spent filling out the electronic medical record instead of talking to the patient.
86
NO healthcare provider pushes for shorter visits unless they're greedy & insensitive. Our overseers push us to do more in less time and it's tiresome. Our patients complain when we are 20 min late because we took extra time with someone else. I'm tired of being yelled at.
There has to be a better balance. Extra time doesn't always equal better care but quick and dirty certainly leads to problems over the long haul.
45
@Matt "Our patients complain when we are 20 min late"
Rules to follow in the medical system:
Rule #1 - NEVER go to an appointment without a good book to read.
Rule #2 - Always book the earliest appointment in the day; they are less likely to run late.
Rule #3 - Chill out. If you don't have an emergency, why make it one?
29
@gzuckier :
its not the health care providers wanting shorter times ! Its their hospital corporation/ insurance company bosses that demand it.
We NEED some form of universal health coverage similar to what every single other developed country in the world has. We don't need to keep enriching CEO's of insurance companies, hospital corporations or pharmaceutical companies.
15
Good pickup.
5
Another story of a mother who dismisses her child's medical complaints.
25
Especially a female patient.
13
@Trina
Mothers are really bad about that.
3
@Paul Kolodner
So did most of her MDs!
8
These articles underscore why the typical HMO practice of restricted access to specialists is wrong. It is simply impossible for the PCP to know about these rare diseases or presentations. And AI notwithstanding, someone has to know enough to ask the right questions.
46
And yet specialists have been shown to miss things because of their narrow focus. I would be more concerned about insurance limiting how many different opinions one can get. With a rare condition it comes down to finding someone who's seen it before. (Or who reads Diagnosis.)
16
ANYONE READING THIS WHO GETS CANKER SORES, FREQUENTLY OR INFREQUENTLY: I grew up getting canker sores, too. Tried everything. I've had canker sores that hurt when I walked. Here's a solution--at least it's worked for me, and it's cheap. Alum, in the spice aisle at the grocery store.
The moment you recognize the arrival of a canker sore, moisten your finger, dip it in the alum, cover the sore several times with the alum, hang out about a minute or two, and rinse it off. Maybe twice a day for a couple of days. Poof. Even if you start late, the sore will NEVER (NEVER!) get as large and as tedious as they used to.
I know a canker sore bears no resemblance to a heart attack, but...
34
@Susan Rushton I'm curious: how did you discover this treatment?
7
I can't speak for them but I can guess. The alum is a drying agent as is alcohol which kills by drying the outer coatings of microbes so that they fail & then the contents spill out. I suspect this is what the alum does to a virus that's usually reponsible. I first got horrible canker sores along with jet lag as a child. I was prescrbed an ointment that definitely dried the tissues - maybe it contained alum?
5
@Susan Rushton I, too, have struggled with mouth ulcers all my life. No doubt stress induced. I’ve tried lots of things, but what’s working best for me right now is lavender oil. Heals them right up!
4
Medicine has been and still is an art no matter how much it uses science to come to a diagnosis. This just proves that some doctors are artists while others are just mediocre.
20
@dfhamel
Not necessarily mediocre, just not specialists. And I've had a couple of specialists whose diagnoses needed a second opinion to get it right. Not everyone is an Einstein or Feynman; that applies to doctors too. The reason rare cases like this are fodder for Times articles or medical mystery shows is because they *are* so incredibly singular that only a high-level specialist will be able to identify them.
9
@dfhamel it needs to be the perfect marriage of looking at results but also listening to the patient. I've been to lots of specialists who literally never looked up from the computer all they did was check off the little boxes on the computer screen and sent me on my way.
15
@Pj :
as discussed here several times it is not THEIR choice. They are mandated by their "bosses", whether its a hospital corporation or insurance company, how much time they can give each patient.
4
I very much appreciate medical details. They allow me to use my analytical skills as well as learn a great deal. I am frustrated, however, when writers write pieces that are structured like "short stories" and give no shortcuts to information in their articles that would inform quickly for a time-strapped reader. This tendency to write "structural fiction" on the part of current journalists increases exponentially over the years. May journalists be better educated in their journalistic skills. Barbara Beierl
4
@Barbara Hardy Beierl
Exponentially? Truly? Hyperbole, perhaps? :)
2
@Barbara Hardy Beierl the body is a story, illness is a story, our relationships form a narrative, and we understand our world--and the experiences of others who are and aren't like us--through story. Literary journalism is the genre that artfully connects fact to storytelling, and I think you're right that there's been an increase in this form especially when medicine is the subject. Compassion, empathy, wisdom, complexity, reassurance: only some of what can't be communicated and passed along via bullet points.
7
@Barbara Hardy Beierl I didn't think it was such a long article to read ( dozen or so paragraphs) so your comment about being time-strapped leaves me wondering how you managed to find the time to comment at all.
3
So much reading to get to the punch line: canker sores!
1
@Jim :
no, that wasn't what the "story" was about. Read it again or read it for the first time.
3
is canker sores, Herpes simplex #1?
3
@dognose 2 no, those are cold sores. Different beast.
6
@dognose 2
Canker sores are white flat blisters, usually inside mouth that hurt terribly.
@MED :
not always, and the patient can't tell.
were her original docs named sue smith and jerry jones? docs with amazing names prove insightful!
5
This highlights a blind spot in mainstream medicine that is programmed in from the very nature of the way it operates. Doctors are told "When you hear hoofbeats think horses not zebras" - they are taught to think in terms of common diseases and not run off suspecting uncommon ones. What happened to the person in the story is the result.
Another reason internships in hospitals emphasize the horses vs zebras thinking is because another insidious thing happens in them - the need to quickly diagnose and numerically categorize someone for insurance billing purposes, thus re-enforcing the need to push everyone into one of the common conditions rather than doing any thinking outside the box.
What would what have happened if she couldn't have afforded the final specialist, or didn't find her way through a network of doctors to get the referral?
It's not just the US. In Germany where half of all GPs either practice or refer to a homeopathist, doctors are encouraged to hang a sign in their office saying "Rare means rarely."
14
@slangpdx I can tell you what happens if you can't afford the fancy Doc to get a diagnosis then your denied your disability from SSDI. Almost all Medicare Docs and Rhumys are no longer signing any paperwork..So I'm praying that I'm not called for a review. Because I no longer have the $$$ to pay for a signature. I'll be lucky to keep a roof over my head. I can see how one ends up pushing a shopping cart. Getting Lupus destroyed my marriage, job, ability to work. SSDI. Is poverty.
21
@slangpdx A good reason to think horses and not zebras is that it won't waste as many healthcare dollars chasing down an unlikely diagnosis. Rule the horses out first and then start thinking about zebras. If we start ordering lab tests and radiology studies because everyone who comes into the exam room might have something rare, healthcare costs will needlessly skyrocket. And yes, rare diseases present rarely.
10
Sudden strong palpitation episodes, breathing issues with burning sensation, very painful and distressing with tachy, lasting 12 hours, starting ten years ago..no known heart issues and clear arteries. Without episodes feeling great and strong, capable of biking for 20 miles. Athletic history with endurance all through life, normal to average weight. . multiple tests, GI checked thoroughly in a well known local learning hospital starting 40 years ago with records. Heart center diagnosed with AFib.
Then while in a foreign country 5 years ago talking to a nurse she turns and looks under my eyelids.. recommends checking for ferritin levels and anemia. Back in US I ask for blood panel and find Ferritin levels as low as 2 mg/DL.. normal is 26-36. undiagnosed chronic anemia causing all my symptoms.. recommended blood transfusion but several sessions of iron fusion elevated Ferritin level and all symptoms disappeared.
This article is a true lead to a possible diagnosis I yet to have. Sadly medical profession is unable to deliver any diagnosis for my anemia case yet and my symptoms return when my Ferritin levels go down.. I will mention Behchet next time but an Ai diagnostic system is long overdue and a life saver. Asking a true diagnosis from a normal Dr. sans some rare cases with all the possibilities, factors and non matrixed data is unrealistic.
39
@Dr. Sanders: What is happening on the AI diagnostic front? Do any hospitals specializing in cardiology have a questionnaire that asks about canker sores?
9
@Mark, Questionnaires should cover more than just canker sores.. there should be blood panel tests Gi, genetic background and etc..in my case low ferritin that not only effects heart but also kidneys, lungs and all other organs left undiagnosed for 10 years while I bounced between several branches and departments in a vast spread of medical network going through very extensive and expensive medical tests. The only way to matrix through all these symptoms and indicators, sans a miracle worker star Dr. is Ai. The root cause of my problems, low ferritin wasn't discovered even with best Drs in one of the best hospitals while having annual lipid panel tests for as long as 40 years in a hospital that has not only records on me but my entire family as well (accessible genetic data). All this hi tech tests and data, until a nurse practitioner in a third world country simply looked under my eyelids for colourings and diagnosed anemia.
13
@Manam
Re: "Asking a true diagnosis from a normal Dr. ... is unrealistic."
Given a list of symptoms, a machine can search a database of syndromes and offer likely causes faster than any human being. It's not even "AI"; it's merely searching.
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Aaaahhhh ! The art of the diagnosis. ‘Super well written; super smart path to the solution. ‘Blessings to smart clinical MD’s and to brilliant medical educators.
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She must have had really good insurance.
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@Kate Cusack Or she's filing for bankruptcy!
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So glad patient is feeling better. Great work-up and management by Drs. Bairey-Merz & Venuturupalli!
- Cedars-Sinai MD
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I am the patient in this article. I extend kudos and my thanks to this team as well, including gastroenterologist Dr Ali Rezaie who found and identified the apthous ulcers in my GI tract through a colonoscopy that sealed the diagnosis. He works with Venuturupalli and Bairey Merz and her team including Dr Janet Wei on the treatment protocol. I wouldn’t have been as empowered to push against multiple diagnoses along the way without the support of my primary care physician, Dr Helene Wechsler. And yes, great insurance has made this possible, it let me keep digging. Pushing back on a system that is set up in hierarchical silos runs contrary to the role patients are expected to have, but with these narrowly defined specialties the whole picture frequently gets missed. One miraculous technological device mastered by the team at Cedars-Sinai is the telephone, which they used to speak to one another to avoid missing those gaps, frequently while I was in the room.
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@Elizabeth Minchew
It was extremely valuable for you to share your health problems and a solution, along with the names of your doctors. Thank you. We learn from each other: doctors from doctors; patients from others and with doctors; patients from patients as we go round and round. Yes, the health history, consultation, collaboration, the telephone, computer, AI, etc., in sum, when solving problems, communication is key.
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Happy for you, madam
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I have known several health care practitioners who prided themselves on writing the diagnosis on the patient chart even before walking into the exam room.
Fortunately, one of these persons subsequently limited his practice to male genital augmentation. The other doc is now dead, but I hope that in his last days he was treated by a practitioner who gave a darn.
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Per the International Journal of Rheumatology (2015), in the US, Behcet's disease occurs in only 5.2 patients per 100,000 people. But, in Turkey, Behcet's disease occurs in about 421 patients per 100,000 people.
With the patient probably repressing the thoughts of the canker sores due to their high mental costs, and with such a low probability of causation, that the correct diagnosis proved difficult is unsurprising. But, the case does show the value of how more unbiased AI directed flowcharts can be combined with the MD's expertise, and more winnowed, yet more standard, diagnostic checklists, to help make more effective and efficient medical diagnoses.
[11/22/2019 Friday 10:21 am Greenville NC]
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Did her family have any connection to Turkey or the Silk Road in their genealogy? (Just maybe an interesting fact.)
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@Penn Towers That 'factoid' is less and less relevant.
It actually is the only thing repeated from one medical text to the next, the numbers have not been updated in decades,. and frankly, it probably is more responsible for more medical practitioners refusing to diagnose, or even consider Behcet's than anything else.
It is sickening how many people I have spoken with who have doctors harping on ancestry and not looking at the patient's symptoms.
BTW, no one really knows what their ancestors got up to...rape, affairs, wars, sailors travelling from port to port...
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Moral of the story? Don’t listen to your mother but, if you do, you may have the possibility of guilt tripping her the rest of her life. That poor mother. Agree that many doctors do not ask enough questions which is where, as one previous commenter noted, an extensive questionnaire via a software program would be helpful.
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@Mac
We are barely out of a time when mouth ulcers -together with stomach ulcers, and yes, rheumatoid pain- was considered to come from a neurotic stresses.
True blame the victim thinking.
Luckily, I learned the association between sodium lauryl sulphate in toothpaste and inevitable canker sores.
Resistance to this being a true association, MDs & DDSs alike? Yes.
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@Mac Cut her some slack. I had mouth cankers frequently as a child and she was right. They do get better and it appeared that everybody had them.
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@Barbara Carson Sodium lauryl sulphate sets off numerous dermatological responses including my herpes events from shampoos and soaps. I so wish it was banned.
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I have a chronic disease that over time I become more aware of symptoms associated with that I never thought were part of it. And it's taken years. I've had to piece it together. It's astounding to me...maybe one commenter is right about the AI questionnaire.
But my real question is doesn't this happen enough where heart patients have symptoms but no blockage that it would be routine to pass them on to other MDs who might have relevant expertise? There seems to be still way too much practice in silos...how do we share the knowledge so a wider array of physicians can bring it to more patients in a timely manner?
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@Lanie
I work in Silicon Valley for both startups and large companies. Whether in healthcare or other industries, enabling transparency and instantaneous communicaiton across disciplines, departments, branches, partners, geographies etc. are goals of digital transformation and AI.
We do see massive, monolithic heathcare organizations emerging with the resources to implement these enhanced capabilities.
So I can now go to a doctor who sees my entire medical record back twenty years with a few keystrokes, along with records of every medication I have ever taken and any red flags or reactons. I can see in the near future that Artificial Intelligence will guide, if not take over large areas of diagnosis and treatment. Recently I had routine heart testing evaluated by an older cardiologist with a great, warm bedside manner and many decades of experience. I almost sobbed with gratitude, trust and relief at this human touch.
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Again, I have wonder if a computer diagnosis program, programmed to ask about canker sores, would have made the diagnosis long before a parade of doctors. Someday one day.
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@Douglas Ritter
No computer program will work unless the doctor inputs all of the symptoms. Except for the rheumatologist, none of the doctors asked the right questions. I have pudendal neuralgia, which affects 1 in 200,000 people. It’s symptoms are strange. I was diagnosed by a friend searching on the internet. My neurologist had no idea what the problem was. She didn’t ask questions which would have led a computer to spit out the correct diagnosis. Garbage in, garbage out.
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@Bathsheba Robie
Exactly put: garbage in - garbage out.
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I’m hoping that Dr. Sanders discusses Familial Mediterranean Fever in a future column. Anyone heard of it? My husband had been suffering for years with severe abdominal pain and fevers landing him in the hospital on morphine. He had part of his colon removed after diagnosed diverticulitis with no relief. Surprisingly, he is a gastroenterologist and upon studying for Boards recertification, he came upon two sentences which changed his life: description of FMF (Periodic Fever Syndrome). A new regimen of meds have been very helpful. Unfortunately, he has a mild Behcet’s as well and has had moderate relief on Otezla. It’s all about the diagnosis.
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@Leslie While you are at it check out the newly described tick disease, Hard Tick Recurring Fever, which quickly damages the liver.
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As I began to read the account I kept thinking ‘autoimmune’. I landed at a big city teaching hospital with a heart attack, in this case a vasospasm, a few years ago. Doctors were puzzled because my arteries were clean, I’ve never been overweight nor anywhere close to even pre-diabetic. I’ve been walking 2-3 miles per day for 20 years. Never done drugs, drink rarely. With other clues and lots of questions they diagnosed me within three days: an extremely rare AI disorder called Churg Strauss. (Clue: adult onset asthma and history of sinus issues, recent fevers, night sweats, and lungs that appeared on film to be pneumonia.)
I’m so grateful to them for their astute diagnosis before I had any organ damage.
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@Louisa Glasson
Whoa! This is incredibly useful, thank you for sharing!!
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@Louisa Glasson as someone who deals with rare diseases (on the disability/legal side), I went to either autoimmune or electrophysiology (autonomous nervous system). Electrophysiology in particular is tough - there are so few specialists in it.
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Where would the patient have been had she not had a doctor who willingly took the time to ponder on the problem and recommend just the right diagnostician for the solution? She was fortunate to have
Dr. Bairey-Merz (who just happens to have been, for over 10 years until I moved, one of the extremely knowledgeable, thoughtful cardiology team members at the Cedars-Sinai Women’s Heart Center!)
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Diagnosing medical conditions sure is a lot 'trickier' than researching even the most distant 'bits' of common law ((i.e. judicial determinations with reported opinions not based upon constitutional provisions, statutes or regulations).
One thing I bet is much the same -- only the truly wealthy and/or the very-well educated 'persistent' (with the occasional 'other' with some lottery-like luck) is a beneficiary of a 'find in favor' of the tricky medical diagnosis 'find' or the 'unearthing of a 'remote' but still valuable and favorable common law precedent.
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I had never heard of this disease till a few months ago when I had day surgery at my local hospital and my nurse and I were talking and somehow the subject came up. She had had this disease for a long time, but it also took a long time for her to be diagnosed. I always find it curious when something I knew nothing about suddenly pops up, randomly, in the NYT. Fascinating article.
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Behcet's disease is the great imitator, much like syphilis. The article proves what we in infectious diseases have known for a long time: taking a good history is critical to making the correct diagnosis. And, it is much cheaper than ordering a lot of unnecessary tests.
Sadly, not many doctors take good histories any more. It takes too much time, and it is not reimbursed appropriately by insurance companies.
Alas, so it goes in the most expensive, and least efficient health care system in the world.
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@Paul Cook Thank you, Dr. Cook, for your insight... you are spot-on regarding patient histories! It seems as if medical schools took a 'wrong turn' in their curriculum 40 years ago by no longer emphasizing the importance of training prospective physicians to do a complete H&P. Instead, they are churning out 'technicians' who micromanage lab data... a nod to 'corporate' medicine and how insurance companies have undermined our health care system.
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Another reason for Medicare for all.
1
A very interesting case.
It is a shame that it took so many years and so much testing to uncover the culprit in this disease process. It seems that the majority of cardiologists are so focused on atherosclerotic blockages that they ignore the element of coronary vasospasm. The latter is obviously very complex, but increasingly recognized with presentations such as Takotsubo cardiomyopathy. I believe that the latter is more common than Bechet's syndrome. Regardless, more cardiologists need to be aware of the complexity of coronary vasospasm.
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I was taught that the patient will always tell you the answer, if you ask the right questions, and that you only see what you know...
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Behçet's can be a vicious disease, and it is a killer.
Our daughter was 21 when it cut all the blood supply to her uterus.
5 days after that major surgery, despite waking up and mentating fully for almost 2 days, the overreaction (Pathergy) of the Behçet's Disease attacked her brain, and ultimately killed her.
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@PeninaD Oh gosh, I am so sorry this is heartbreaking. I can't imagine what you have gone through. Again I am so sorry for your pain and your loss..
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@PeninaD
So sorry for your loss.
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@PeninaD I am sorry, how difficult for you and your family.
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Wow very interesting and mind blowing journey for this particular patient. It can be both amazing and frustrating to how our body works, , how things are connected, and how things can lead up to a domino effect. I commend the persistence and determination of these doctors, they are the epitome of quality physician, To keep asking the most intricate facts about her life and even her childhood. My mother has been to so many physicians in her lifetime, that don't even care to have eye contact with her during a 10 minute consultation. At times medicine isn't easy peasy, where everything is detected right at the surface, where we have to stay relentless both as the physician and the patient and work as a team.
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MS1 here. Super interesting presentation of Behcets. Normally I would have never connected the angina with Behcets.
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Very interesting case study, Dr. Sanders, thank you. My first thought was Prinzmetal’s angina until you brought in those additional findings.
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@Frank Actually, this was Prinzmetal's angina. But her doctors were thinking broadly about her entire self.
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@Lisa Sanders MD I initially thought of Prinzmetal's angina also as I was reading this. But what a surprise to get a bigger picture of all the symptoms the patient had, that we didn't know to ask about.
This was a fascinating article to read and reread.
I'm 69. I have MS, one inflammatory disease, and I have strange inflammatory skin lesions on my face, arms, and legs. The dermatologist has no clue what's causing them. I just live with them and try to cover them with make-up.
Cold sores come and go.
I have a strange severe squeezing in my chest several times a month. My cardiologist gave me a stress test and it was negative.
Just had this strange, severe squeezing right before I read this article!
I think I might print this out and take it with me on the next visit to the cardiac doctor.
Many thanks for your expertise!
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I am still not clear of the connection between her vasospastic angina and the Behcet’s which seem to be two different diagnoses. Behcet’s can cause vascular complication but it does not appear that she had vasculitis.
1
I live in Minnesota and have several friends w/ Behcet’s. I admittedly don’t know if it is true, but I have been told that Behcet’s is also more common in Scandinavia, hence it’s increased frequency in Minnesota. If you have something odd like this going on, it might be beneficial to have this considered.
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This is an absolutely fascinating article. Thank you, Dr. Sanders for writing about this patient in such detail.
Each person has a unique body and sometimes things go awry. There are so many variables that it's almost impossible to diagnose certain maladies.
This article shows us that one simple question can unlock a mystery and provide a patient with relief from most of their symptoms and give them a better quality of life.
A heartfelt "thank you" to all of our medical professionals.
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Adalimumab is commonly called by it's commercial name - Humira - and is used to treat many auto-immune issues. I'm not sure why you just didn't call it by a name that people would recognize.
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@JMiller Most physicians, particularly academic physicians, as well as most publications, refer to medications by their generic name. Trade names are mainly used by advertisements and salespeople.
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@anon Plus, trade names differ from country to country.
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@JMiller I agree with you. Many of us lay people read these cases. Maybe saying adalimumab (marketed as Humira) would be appropriate?
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While these articles are wonderful mysteries, they make me anxious about any symptoms I might have that are recounted in the evaluations!
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