This excellent article by Dr. Sanders, and the comments, reveal how common misdiagnosis is, and how recalcitrant doctors are to acknowledge and learn from their mistakes. And let's not forget that the element of misogyny is so common in the practice of medicine.
Perhaps changing the algorithm used to select candidates for medical school will result in doctors with more flexible minds. With the current system, too many doctors cling to the rules and regs they learned 20 or 30 years ago, and have an inability to keep up refreshing their knowledge.
75
I had a high thyroid due after I gave birth to my daughter which caused a feeling of starving, high heart rate, rapid weight loss and of course, anxiety. It was first misdiagnosed as anxiety, and then Grave’s Disease by an endocrinologist. She wanted to remove my thyroid. I refused because it didn’t seem right, so she put me on the drug PTU and I had a very rare side-effect of severe neutropenia (that got misdiagnosed as a sinus infection for a few days) that landed me in the hospital. A bone marrow biopsy (they thought I might have leukemia) and a bunch of shots of nupogen later, they finally tested my thyroid again. It was normal. The marker of postpartum thyroiditis is that it resolves itself after a few months, and it is more common after a hemorrhage, which I had had with my daughter’s birth. The medicine, PTU, had been destroying my immune system—probably because it had nothing better to do. The bills were financially devastating, I was traumatized, and I lost out on enjoying the first year of my daughter’s life. Moral of the story? I probably never should have gone to the doctor in the first place. Women—watch out for that anxiety diagnosis. If you know something isn’t right, chase it down, but don’t let them throw around diagnoses like candy, either. Especially after you’ve had a baby.
119
This story is very familiar to me. I had unexplained heart racing, hypertension & headaches after the birth of my twins. The cardiologist I saw told me it was "new mother stress". The hypertension medications he tried did not control the high blood pressure or headaches. I ended up in CCICU for 7 days after an episode of feeling like an elephant was sitting on my chest, my BP was so severe they were concerned about a stroke. During my hospital stay I saw that among the IV bags I was being given potassium. I asked why my potassium was so low, and cardiologist said it was nothing to worry about the IV's would bring it back to normal. He missed this key indicator of an adrenal tumor. 6 months later I found my way to Dr Phyllis August at Weil-Cornell who reviewed my medical records and diagnosed Pheochromocytoma. She confirmed it with a C-Scan and saved my life.
I can't help but wonder if a man presented the same cardiac symptoms would they also have been dismissed as stress induced?
269
Woman? Check.
General symptoms? Check.
Normal exam/labs? Check.
Well of course! Must be anxiety (or psychogenic)...
...I certainly sympathize with this woman. Better to have a tumor with a treatment, than disabling symptoms and no diagnosis.
How many MDs did she have to see to finally get an answer? In the end a cardiologist has to put on his internist “cap” to save the day.
427
@AV Yeah...this woman’s story sounds quite a lot like my own. Many months without a diagnosis, 6 trips to the e.r. with horrible screwdriver-in-the-eye headaches; once I was sent via ambulance after passing out in a store.
I worked full time, and am a single parent with a then-4 year old. Family lives across the country. Getting sick was just not an option, but my headaches kept getting worse and my vision was getting really weird.
The neurologist thought it was my teeth, and I needed a root canal. So, I got one...but the problem was not my tooth. Next, physical therapy for overly-tight neck muscles. Numbing injections in my forehead that took her 5 minutes at the end of office visit, for which she would charge $1200 (on top of the visit). She accused me of being an addict looking for drugs; said my headaches were likely “rebound headaches” - and that even Tylenol can cause them, so I must not take anything for the pain, ever. My eyes were tearing from the pain as she said this, and walls looked like they were...covered in bright smears of light, and melting.
Turned out I had a brain tumor; I needed brain surgery. Somehow the radiologist, and the neurologist, missed it on my first MRI, setting me up for 10 months of being told there was nothing physically wrong with me. I finally insisted on another MRI and...there it was. The surgery was complex because it was deep and attached to important structures, but my surgeon was terrific, and he got it out. And now I’m fine.
117
@AV
Chill … I am but a retired doctor of jurisprudence … but I'm pretty sure it isn't fair to expect that a medical doctor -- be he or she a 'generalist' or a 'practitioner' of one or more 'specialties' -- should be always (or ever 'immediately') able to see or find 'the needle' in every 'haystack' … no matter how long he or she has studied 'needles' and/or 'haystacks.'
29
God bless endocrinologists. Seriously.
21
This cuts both ways. Good results for this woman. It always amazes me how specialists in a field that are making hugh sums of money cannot diagnosis an uncommon or rare disorder or at least send somebody to another specialist.
I suffer from pulsatile tinnitus, subsection veinous hum, a very uncommon form of tinnitus.
I went to four ENTs. The first three told me there was nothing wrong with me. I diagnosed my own condition on the web that fourth ENT confirmed.
On the other hand, you have hypos that have nothing wrong with them other than being a hypo but will go to countless doctors trying to find out what is wrong costing the medical system trillion of dollars over time.
5
I am amazed this merits an article and that the patient was that hard to diagnose. I too am an electrophysiologist and when I read the headline I thought, "I bet she has a Pheo". In addition to thyroid function tests the lab test for pheochromocytoma should have been part of the early work up!
58
great article very very informative the body is an amazing piece of equipment
2
Yay! I suspected the endocrine system from the start, having experienced an over-active thyroid. I'm surprised no one looked earlier...
6
Were the 2 internists (at least 2 I'm sure), the OB and 12 emergency room doctors(at least) held accountable for the YEAR this woman spent suffering and deteriorating with this tumor? Did it go on their permanent record?
The woman get proper treatment because of a chance encounter with a friend who referred her to Dr. Sung. How did those other doctors sleep at nigh knowing they sent a very sick, hurting woman home with no relief, no real effort on their part to heal her?
This is the health care that we are so attached to? I guess the patient didn't die so they said OK, I sent her back home projectile vomiting, in intense pain with her heart misfiring? They failed miserably but there are no consequences for that failure.
48
As an Intensivist and Anesthesiologist who has taken care of more than 150 patients with pheo, the diagnosis was obvious. It’s a shame there are so many clueless physicians
57
Scary problem that was ultimately correctly diagnosed , treated and resolved!
Based on her vomiting resolving her symptoms periodically, I am wondering if her Pheochromocytoma was on the left side! Any thoughts?
1
This is ridiculous. I was a Submarine Independent Duty Hospital Corpsman - HMC(SS) Ret. When reading the article pheo was immediately, although low, on my list of differential diagnosis. AND I WAS JUST A CORPSMAN. Just another example of the failing quality of health care in the United States.
37
I have to question the Monday morning quarterbacking of all those to state that Pheo was their first thought here. Which is more common SVT or pheochromocytoma? Postpartum cardiomyopathy, intermittent a fib, or Pheo? Anxiety or Pheo? Those who said it would’ve been part of their initial work up or advocating a hunt for zebras without bothering to check for horses. The proper traversal of the tree of differential diagnosis is to look for common and immediately life-threatening causes first, then to work your way to less common causes as more common causes are ruled out. Yes, when we see this presented as a “medical mystery” it’s easy to quickly see the stripes of the zebra, but I think it’s disingenuous to not admit that we are employing the retrospectascope. Before bothering to check forces
17
Given the symptoms, I wonder why they didn't give her the blood test for these hormones sooner. Seems like a bad oversight.
7
Three points.
Headaches relieved by vomiting are ominous and the report of these should have kicked any doc into action.
Holter monitors for heart rhythm disturbances are now the size of car fobs and stick on! Amazing how’s its hard to blow someone off when there’s a record of cardiac overdrive ...
All too often, “healthcare providers” jump from keyword to onto an algorithm, then get annoyed with the patient who’s not “having to disease for which they are being treated.” A “doctor” on the other hand, should understand why symptoms occur and how they fit together.
8
@DrDixie
She had two holter monitor tests in her workup before she got to Dr. Sung. These were uninformative.
5
Wouldn't a medical expert system using artificial intelligence have helped with the diagnosis?
5
I made the diagnosis 1 second after reading the title of the article. But I went to medical school 40 years ago. I suppose medical schools are more “innovative” these days...
21
This old dermatologist made the dx of pheochromocytoma before the dx was revealed :>)
10
I’ve had the symptoms described and, like this patient, have been told that it’s all a manifestation of my migraines. I’ve been referred to the neurologist, who said he doesn’t know why other doctors send him these cases that aren’t brain disease, I’ve worn the “event monitor” (a Zio patch) to record my heart rhythm, I’ve had imaging done and blood taken. Next step is a vestibular specialist. It’s like the blind men (and women) and the elephant. Wouldn’t it be great if we could just be plugged into a computer for analysis, like a car?
10
Pheochromocytoma was my initial dignosis; nice to be right but also retired
14
What is wrong with people, especially men, that their reaction to women is that it must be stress or anxiety or depression?
And how many of the thoughtless tests and careless “psych” diagnoses of women are based on the profiteering financial owners of these near-monopoly conglomerate healthcare systems pushing their employee physicians to make quota?
How many physicians are pressed by their owners to maximize profits by spending as little time as possible with patients while also sending them for as many tests and pharmaceutical prescriptions as possible?
Add into the equation the for-profit private insurance companies (tied to employment) — who charge outrageous premiums while denying coverage for all those tests — and you can see why Americans don’t have medical care or healthcare. Americans are nothing more than a source of profit for sociopathic capitalists.
20
What else is new that women have to keep at it before they get a correct diagnosis, that a first response to any problem they have is "nerves"/anxiety. I was given tranquilizer prescriptions I tore up for an ovarian cyst that kept opening and closing letting out a toxic substance and then heavy menstruation caused by fibroid tumors.
18
I see BP not mentioned anywhere. That could have been a clue.
5
Can the fight or flight hormones become depleted from such an episode? Would that explain why she would have an attack every couple weeks, as the hormone levels recover to a certain level?
4
There are many morals to take away from this story but I'll focus on this one. How many doctors did she have to go to before her ailment was ultimately discovered...a lot. Many have suggested too many. I'd rather focus on the fact that she was ABLE to see so many doctors...and not go broke. Either she's rich or she has good health insurance. Shouldn't every American have this type of health coverage?
28
As I think virtually every time I read these fascinating columns, Why can't these symptoms and diagnoses be put in a computer base?
Dr. Sung would now write: Heart beat acceleration for "no" reason might be..."
Please, AMA, let's get this going.
7
I’m a retired endocrinologist. I read the headline and immediately said to myself “it’ll be a pheo.”
Of course I had the bias of my profession and knowing an article in the Times like this isn’t going to wind up being anxiety.
19
A naturopathic doctor would likely have caught that much earlier because they routinely check cortisol and adrenal function. But they’re usually called quacks and charlatans for doing so. Western medicine has much to learn. Quick, easy, and inexpensive-especially in lieu of the tens of thousands likely paid to all this patient’s specialists, facility fees, and procedures.
16
My advice is to always go to a University Hospital in the nearest city since they have many doctors who work together as a team to solve medical problems
5
Too easy. If her primary was a radiologist, the CT scan of the abdomen would have been ordered sooner.
4
I wonder how this story would have gone if AI rather than human memory and imagination had been used to make the diagnosis.
3
I am repeatedly shocked by the ineptness of the doctors that are frequently the initial consultants to these patients with what seems to me relatively straightforward diagnoses. As a veterinary interest of several decades, after having read the description of the symptoms, high on my list of rule outs was a pheochromocytoma. I can not understand how this woman was so ineptly treated by so many doctors before a large tumor in her abdomen was finally discovered. If this had been a dog in our practice, although the history and subjective symptoms would have been much less helpful, we would have discovered this relatively quickly I believe.
The doctor that discovered the cause of this patient’s problems simply did a proper work up. Unfortunately I am not shocked at the repeated incompetence of the physicians that get reported in these case studies having dealt with the health issues of older relatives over many years and seeing repeated serious errors in treatment and diagnoses missed.
16
Got this one right toff. Pheochromocytoma is the rare diagnosis all of us were always looking for in medical school. 21 years later I still have never seen a case...
4
I also see her initial treatment as a result of doctors not taking women's symptoms seriously - again. Way too easy to not know the answer and then assume it must be anxiety. I wonder if it were a man with these symptoms, how much harder would doctors have tried to resolve?
18
I get weird pounding of my heart sensations .Bp/pulse good heart sounds good.I mentioned this to a doctor who visited me at home for free with Human/medicare..She shrugged her shoulders and we moved on Thanks NYTimes for helping me see that maybe meditation is not enough
5
I usually struggle with (or have never heard of!) the diagnoses in these columns. I diagnosed this one based on the title sentence alone. Not sure why it was so complicated.
3
I hope that most people who read this series of articles don't come just to the conclusion that a lot of doctors are incompetent.
The fact is, biologic systems -- such as the human being -- are incredibly complex, and the clues to the problem are usually very general, present in an endless variety of different diseases. There's a reason physicians spend years and years in medical school and residency. And sub-specialty training.
The 15-minutes-per-patient mandate doesn't help.
3
I am a dentist, very little medical knowledge, but a 30 second read of her symptoms had me wondering if it was hormone related.
6
Duh. I guessed the diagnosis from just reading the headline.
4
Yes, the first instinct I had when I read the initial description was a pheo. This is a classic presentation. A 24 hour urine catecholamines is cheap and would have nailed it without all these expensive electrophysiology testing. She shouldn't have needed this much time to have it figured out.
My paternal grandmother had a pheochromocytoma in her 50s. There was no CT scan at the time and the surgeon dared not do an exploratory laparotomy because her BP was very labile. Fortunately, the first CT scanner soon became available and located the tumour. She survived the surgery. As an anecdote, my maternal grandfather introduced her to his friend who was said to possess some special ability. This guy was a novelist who wrote murder mysteries. My grandmother was very sceptical, and the man (who did not know anything about her medical history) told her she had a growth above her right kidney (and he was proven correct). He also told her she had snowflakes in her lungs. My grandma had miliary TB when she was a child, and died of bronchiectasis at the end after spending almost two years in hospital. I was there when she met this man, and it was spooky.
7
Like a lot of readers, I also wonder why it took so long to make an accurate diagnosis. From the description of the case, it seems pretty obvious. But one of the challenges in diagnosing pheochromocytoma is that laboratory work-up often appears normal. I wonder if earlier testing showed a negative work-up, leading her doctors to incorrectly assume that pheochromocytomas had already been excluded. It's a good thing a CT was ordered, leading to the correct diagnosis.
5
Interesting, and it underscores the need for doctors to to look deeper and not just throw medication at patients when they don’t even have a proper diagnosis. It seems like she should have been able to get to the bottom of this problem sooner.
5
I don't understand why this diagnosis was so difficult to make. Pheochromocytoma is the classical cause for enigmatic elevations of the hormones that stimulate heart rate and anxiety. No one with a strong background in endocrinology would have missed it. It is a classical, rare, usually benign tumor that is frequently cited in medical school as the uncommon cause of intermittent symptoms that appear to be anxiety. MD, AECOM, '77.
21
@Dana
Fully agree. Careful history and appropriate choice of few investigation such as symptom rhythm correlation and ambulatory BP monitoring would have lead to clinic diagnosis of pheochromocytoma which would be confirmed with biochemical testing and imaging. MB, ChB, FRCP 72, Professor of Medicine (Cardiology), Queen's University, Kingston< Canada
4
I think with a 1 in 1,000 malady you have a chance. With a 1 in 10,000 (or less) malady it requires a determined patient, luck, and an insightful doctor.
5
As the saying goes, hindsight is 20/20. If she had a general internist evaluating her early on, there's a very high likelihood the doc would have ordered a random AM cortisol level earlier on. The problem is we have a proliferation nationwide of freestanding ER's which are geared towards excluding immediately life-threatening conditions at a high cost, and a paucity of outpatient general internists.
18
@Sandeep - very true; unfortunately this trend is worsening; I believe this diagnosis would have been made sooner in times gone by.
2
This is a classic in medical school. I have never seen one in real life or medical practice but it was a question asked in many exams I took. So I knew from the first lines what it was. Now I wonder if they are no longer teaching pheochromocytomas in Med School since it took so much to make the diagnosis in this case.
24
@CoquiCoqui I think it depends on your physician. My son had what was eventually determined to be a panic attack but they did a CT to rule out a pheochromocytoma after a full cardiac work up. His dad is a physician which probably explains why they so thoroughly explored it.
7
This seems like yet another piece of evidence that individual humans just aren't fully up to extremely complex tasks like medical diagnosis where the input information is complex and obscure and the possible outcomes are many and often also obscure. Let's hope that the big data AI types are working on the problem.
And, BTW, how much did the American patient in the story pay for all the diagnoses and eventual operation?
9
This seems like yet another piece of evidence that individual humans just aren't fully up to extremely complex tasks like medical diagnosis where the input information is complex and obscure and the possible outcomes are many and often also obscure. Let's hope that the big data AI types are working on the problem.
And, BTW, how much did the American patient in the story pay for all the diagnoses and eventual operation?
2
Like many others, I knew where this was going after two sentences, but that is because I have encountered Pheo in someone close to me. Apparently, many doctors have not encountered it. Imagine a misdiagnosis of diabetes, leading to several years of treatment with insulin!
14
There are two problems that cause us to live longer than needed with medical issues. First, doctors tend to diagnose women too quickly with anxiety. Women often go unheard by physicians when they try to explain all of their symptoms. How often are men given this diagnosis?
The second is that there are so many specialists and subspecialists. I have a number of orthopedic issues and have been to at least 5 orthopedic surgeons, 4 neurosurgeons, 2 neurologists and 4 pain management specialists. Acupuncture, which helped, isn't covered by insurance.
Some of the doctors don't seem interested in my complete medical history. Because of being treated at 3 hospitals by more doctors than I can remember, the files kept by our local system are incomplete.
Before my last appointment, I spent hours writing lists of my current symptoms, surgeries, illnesses, every physician I could recall and treatments I received. The doctor, who spent 5 minutes with me, wasn't interested. Instead, he referred me to another specialist whom I can't see for a month.
The last time I had this much pain, it took 6 months after losing my ability to walk without being hunched over and in horrible pain for a spinal fusion to be done. The surgery was successful but now I have the same symptoms. This time they will be doing a trial run of a spinal nerve stimulator. If it works, they will implant the device in my back.
I can only pray that it works. My PCP has been my advocate and I value his advice.
27
When I’m feeling cynical I think that doctors have a few ‘go to’ causes and like to attribute (women's’) symptoms to adolescence including menstruation, child bearing, menopause, stress or a virus. Then I remember all the great stuff they do and feel guilty...
7
Please remember that thanks to insurance companies, we providers often see 20 + patients per day. In 15 min visits-we have to interview, determine differential diagnoses, order tests and/or treat. Ordering tests/imaging can be tricky and expensive especially tests or imaging requiring pre-auth. What if the patient cannot afford the copays or out of pocket costs if the labs or imaging are NOT covered by insurance or if the patient doesn't have insurance or one with a high deductible? This is the real life problem for providers and patients alike and contribute to the disparity in care. Universal Health Care modeled after the insurance available to Congress would be a good start!
89
When I saw the symptoms--racing heart, headache, vomiting--I thought--adrenal-related tumor. Because I knew a young person (20s) with these symptoms--all caused by a paraganglioma growing next to kidney/adrenal gland. Major surgery removed the tumor, and symptoms ceased.
14
As a Respiratory Therapist, I remember a patient dying from the pheochromocytoma. She had many of these symptoms, but hadn’t been diagnosed before suffering and dying from the final episode. She’d had episodes of racing heart and high blood pressure. I don’t think she’d had a CT scan that diagnosed the pheochromocytoma until she come into the ER the day she died.
30
I used to work with a Physician who insisted that Medicine was still very much an art that employs science- not the other way. The longer I work in the field, the more I realize that he was and is probably right.
There is a lot of science in the practice of healing, but there is also a lot that is not yet defined, fully understood or mapped. Because of that, many times getting an accurate or full diagnosis is the hardest thing for a patient.
22
@David Gregory —I knew a physician who often griped about insurance companies and would end with “If you want to practice medicine, get an MBA. They’re the ones that decide who gets what treatment.”
6
My concern with this article -- a rare occurrence with Lisa Sanders---- is she just doesn't give justice to the pheochromocytoma. I re-read twice and never saw any mention about this woman's blood pressure. Hypertension is very usual in pheochromocytoma, and not detected prior to a surgery or delivery, this aspect can be lethal. Rarely, a pheochromocytoma may minimally secret norepinephrine which is mainly the reason for the paroxysmal elevation of B.P., and, mainly secrete epinephrine which is the main factor the described symptoms but this is a rarity within a relatively rare hormonally active tumor, which, while rarely seen by the average clinician is taught to every medical student.
20
Several thoughts... As a psychologist, I wonder how many of my patients have undiagnosed medical problems. I am always on the alert for them when symptoms are atypical.
On a personal level, I find that it is not unusual for doctors to draw hasty conclusions based on what they expect. I was seen by a medical resident who after interviewing me, said "at least we've ruled out the scary things". I thought this was odd because she had not examined me or ordered any tests. I was (and still am) having episodic palpable pain below my rib cage. When she brought in her supervisor, I finally asked him if I could SHOW him were the pain was (again, no physical exam initiated by him). He ordered some x-rays, thinking may I had a rib fracture and sent me to PM&R. (I have had the pain for at least a year and had had no injuries.) I had also mention digestive issues more than once.
The PM&R doctor was very nice and thorough and listened when I told him I really didn't think it was a musculoskeletal problem. But he sent me home with some PT exercises to do which would strengthen my back (I have a bit of scoliosis) and an appointment to come back.
Now I'm not frantic about my symptoms - it's been a year and I'm not dead yet. I'm not really angry with my doctors either. Just mystified by where they choose to focus their attention. This article was makes a great point about being willing to consider a new hypothesis when the original one isn't working.
32
@drmaryb
I hope your pain assuages and wish you a long life. And I share your concern for physicians' foci of attention.
In the last 10 years, I've had three primary care doctors. None has examined me physically. They've prescribed many tests, scans, etc., but that's all. Their nurses take blood pressure. Before this, I had an excellent doctor who was also a superb diagnostician who also looked at and felt my body. (He dropped my employer's insurance.)
I realize physicians are under pressure with the electrical records requirements. And I wonder how many conditions may be missed because of the missing human connection.
13
@drmaryb I'm amazed at how many doctors don't want to touch patients. I remember as a child having doctors feeling for various organs, glands etc.checking reflexes and manipulating joints. Now they ask a few questions and order tests.
I went in once after a fall because I thought my shoulder was dislocated. The doctor never tried to move my arm or feel my shoulder but decided that it was not a dislocated shoulder. I went home in pain, unable to move my arm. Three days later, as I was sitting on my bed, my dog jumped on my and fell back onto my arm. I heard a pop and then felt a burn and my arm could move again.
I was still in pain though so went back and met with an old-school doctor who physically checked my shoulder. Of course, everything was back into place but the visit was just so different from the young doctor I had seen a week before.
23
My pheochromocytoma was also diagnosed by a persistent, smart cardiologist who had the sense to look at me as a whole person, not just isolated symptoms. Ironically, a pattern of high blood sugar had led me to see an endocrinologist, who I think should have figured it out. He misdiagnosed Type 1 diabetes when it was actually the tumor causing my blood sugar to rise. I diligently saw him 3-4 times a year and discussed my weird symptoms, which included a wildly racing heart, feeling hot all the time, and episodes of explosive head pain. He put me on oral meds and then insulin injections for my blood sugar. Even when my undiagnosed pheo symptoms reached a crisis stage and I was in the ICU he poo-pooed the cardiologist’s request to look for a tumor. Fortunately she persisted and ordered an MRI that revealed a tumor on my left adrenal gland. The subsequent surgery also cured the diabetes. It’s not that hard to test for a pheo; it’s too bad people have to suffer (and nearly die) while waiting for answers.
62
I disagree with those who say that this is a misdiagnosis due to gender.
As a child and teen, I used to have syncopes (fainting spells) for no apparent reason. I was otherwise strong and healthy. My parents took me to a series of doctors. Not a single one made a correct diagnosis.
It was only when I reached age 44 that I had a cardiac arrest (while driving to the doctor!), and the cardiac team immediately discovered that I had congenital Brugada Syndrome, a very rare arrhythmia of the ventricle chambers. I wondered why those other doctors had never figured it out.
Unfortunately, there’s no cure. But there is prevention, and I’ve got every preventive out there!
16
But you were a child. That’s only one step above a woman in terms of being taken seriously.
12
I often find these stories disturbing because they seem to prove out my concern about medical practitioners: If it’s not something common that can be addressed in a 15 minute office visit, they are often not interested in getting involved.
More disturbing are the deeper factors:
Sometimes doctors just haven’t kept up with medical trends and are still practicing medicine they learned 20 or 30 years ago in Med school.
Sometimes doctors are pressed to “move on” through patient appointments and meet metrics defined for them by their clinical practice.
Sometimes doctors are simply stuck in their own ego and aren’t open to consider other possibilities.
With all these challenges, I wonder how the debate around universal healthcare will factor to either exacerbate or ameliorate these already concerning matters.
37
@Hector
Don't blame universal health care,. I have been misdiagnosed and had my complaints ignored that resulted in long life problems and I have one of the best healthcare insurances in the country, plus live in an upscale area of the country.
You need to be skeptical and an advocate for yourself when it comes to health care.
15
What is missing in many of these cases is someone who can see the big picture and thoughtful stepwise use of diagnostics rather than a shot gun approach (often motivated by a fear of missing something but commonly adding to the confusion). Maybe this is not so much an example of a rare disease (of which most doctors have heard in their education by the way), but a comment on how health care delivery in specialized silo’s leads to inaccuracy and inefficiency.
21
I've also had symptoms that don't fit a neat diagnosis. I've found that once doctors rule out the most obvious or life threatening problems, they lose interest in finding out the underlying problem. I've been left to figure it out on my own (which I did). This is very discouraging and can make a person doubt their own mental health. Kudos to Dr. Sung for going the distance for his patient.
48
My husband had a pheochromocytoma diagnosed and removed this summer from his right adrenal gland, four and a half years after the onset of his symptoms. In that time, we figure at least ten different doctors examined him and couldn’t diagnose the cause. He had a pacemaker implanted in July 2018 that didn’t change much of anything in the way of his symptoms. It took until this year, after he fainted behind the wheel, totaling our car (and fracturing my sternum) that we decided we had to figure this out. In May I googled “wildly fluctuating blood pressure”, pheochromocytoma popped up, he requested the 24 hour urine test from his cardiologist and was diagnosed mid-June. Surgery followed in mid-July and now he’s doing great. Our guess as to why the docs didn’t find it? His age, 61, is outside of the 20-50 year old window when most tumors are discovered.
56
It clearly shows a poor understanding of the physiology of women, and the dismissive nature of doctors attributing symptoms to the vague label of anxiety. Obviously the forensic nature of questioning has been lost over time. It is time we had a computerized solution to symptoms and history, which can compare data and come up with a couple of scenarios. Then one can be referred to actual specialist human doctors.
11
@Meena
That sounds good in theory but may have some difficulties as many symptoms are very nonspecific. For the last 11 months, I have been exhausted, very fatigued, had a low grade fever that varies during the day, have anorexia and have lost 16 pounds. I have had repeated urinary tract infections. One of my doctors did a test on my urine that showed TB. My chest x-ray showed a nodule. I had the nodule removed and the full TB treatment. My symptoms never improved. If you feed those symptoms into the computer, you would end up with a plethora of responses. A new doctor just did a post treatment contrast CT on my chest and abdomen which showed inflammation in the lungs. Again, that is not specific. I am scheduled for a bronchoscopy and biopsies. I'm not sure what I will do it if they are negative. The entire diagnostic process began with an off the wall look for something causing my repeated UTIs (which I now have the third one in 6 weeks with confirmed uninfected tests after each treatment.) I would love to find a doctor who looks at the whole person instead of specialists who only see their specialty. In my opinion, good diagnosticians are the answer to this problem, someone who can see the entire person.
12
As a young intern 30 years ago, my faculty attending once told me "there is no such thing as pheochromocytoma... (long pause) except sometimes people have a pheochromocytoma"
25
@Smufty - as a first year resident i had been educated on its corollary - “rule #1 is that it is never serotonin syndrome. And then, after you’ve done an exhaustive search and ruled EVERYTHING else out . . . . . . Remember rule number 1.”
I am a retired internist.This case should have been such a mystery.Symptoms were classic Pheo.
I saw a patient in consultation.Going through her old chart.Through her numerous admission she was described as having anxiety episodes causing hypertension.Strangely this lady was 75 yrs old.VMA studies showed sky high values and a CT Scan showed not only a Suprarenal tumor (Pheochromocytoma) but also a kidney tumor on the same side
21
At my first job, almost 60 years ago, I shared an office with a someone who was studying part-time for a PhD in the new field of Operations Research. He was developing a dissertation on computer-assisted medical diagnosis (yes, we had computers back then).
Why are we still relying entirely on how the doctors are trained, what they have experienced and what they remember when computers can draw on a much broader experience base, huge databases, and modern data analysis (including machine learning techniques) to assist (not supplant) the diagnostician?
27
I read this as a condemnation of the quality of medical care in her small town “one hour from Denver”. Most higher quality physicians practice in large cities where there are enough patients to support a specialty practice and where they work with other top level MDs. A neurologist or a cardiologist should have thought of a pheochromocytoma almost from the beginning. It seemed like the most likely diagnosis just from the headline to this article. I wonder if she was seeing GPS, NPs, and PAs who might state they have specialty interests with no real training or experience. This is often the case in small towns. I guess the lesson is to travel to a large city if you need quality care.
23
The Washington Post is full of stories of a similar nature: PCPs who have zero curiosity coupled with stubborn belief in their ad hoc diagnoses. It's not a location problem.
3
And the one physician who insisted she was just anxious, and didn't believe her when she said they were physical and not psychosomatic symptoms. But she had a tumor.
It makes me furious. I've had chronic joint pain my whole life that's never been diagnosed, and because they can't find any objective cause, doctor after doctor have turned me away and some have suggested it could be psychological. The same thing happened when I had months of severe pain from an IUD, and they insisted I had "just heard bad things about IUDs." I deeply respect doctors, except when they tell women we're being hysterical. It's deeply harmful and traumatizing. Like, I injured my rotator cuff and waited two years to get it checked out because I was so discouraged by all these other experiences.
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@Liz Have you ever been evaluated for Ehlers Danlos Syndrome? It causes agonizing joint pain that doesn’t show up on imagining, leading to many patients - especially women - to be told they are faking or malingering or have psychosomatic symptoms, and yet it isn’t even that uncommon.
19
@Liz
I had joint pain, in addition to numbness in my hands and feet. I went gluten-free and dairy free and I now have zero physical issues. Plus, I have mental clarity.
3
I don’t know why this was such a mystery and so hard to diagnose. I didn’t get past the first few sentences and the symptoms alone suggest this dx high on the list. The symptoms are absolutely classic.
Should have been suspected in every doctor’s office and emergency department visit (although it wouldn’t be readily diagnosed there—the patient would be referred for standard diagnostic testing) and ultimately a CT).
34
@Garbolity
Yes indeed Garbolity. For months after I started experiencing high blood pressure and episodes of atrial flutter I kept saying "it feels hormonal, too much of something". After various MDs and their disregard, I went to an endocrinologist anyway and was diagnosed with enlarged adrenals and a case of hyperaldosteronism. A simple, old drug has fixed it.
One must push and push to get past the inertia.
60
I am a retired physician. I have practiced and taught both general internal medicine and subspecialty medicine (Infectious Diseases).
Kudos to Dr. Sung for dusting off his "internist cap." Too many subspecialists aren't capable of doing it. The best subspecialists are usually very good internists.
Pheochromocytoma should have been high on the differential list from the beginning. The key here was listening to the patient before doing lots of fruitless testing. History taking and physicial examination are lost arts.
272
@Hoarbear the combination of a rare disorder and common symptoms are the very hardest diagnoses to make
When I saw the title of this piece, I had to read it since the symptoms sounded similar to what I experienced after being treated with a high dose of steroids for sudden hearing loss. After only six days, the steroids caused my adrenal glands to go into hibernation and allowed me to experience what steroid withdrawal fells like (extremely unpleasant to say the least). While my ENT and an endocrinologist I sought advice from found it hard to believe that I could develop a problem with the steroids so quickly, my obgyn believed me and helped me through the withdrawal process.
While the patient and I did not have identical medical problems, I would like to inform readers to be cautious when taking steroids for non-life-threatening conditions. Steroids can quickly make your original health issue seem inconsequential if the steroids shut down your adrenal glands.
Happy to know that the patient was fortunate enough to be seen by a doctor that was willing to broaden his view of the circumstances.
44
This highlights the downside of seeing a Specialist. I have several of these symptoms independently, so I’m not assuming I have the same illness, but I have found that Specialists focus on their area of expertise rather than the patient’s range of symptoms. If they don’t resolve the issue in a couple of visits they send you on to someone else. Dare I say they seem impatient with the lack of a diagnosis? One Doctor told me she didn’t need to see me again, I could go to the nurse practitioner in future, despite my multiple symptoms. I switched doctors.
60
I have been struggling with similar heart racing symptoms and palpitations for years. With the exception of searing headaches. But in retrospect I have started to develop migraines only in the past year. I had all the same heart tests. They came back normal with the exception of a handful of episodes recorded in the 7 day heart monitor. I was diagnosed with Hashimoto’s Thyroiditis and take a replacement hormone for that. I have had other blood test for autoimmune markers etc. I am at my wits end. I can’t sleep due to my heart literally waking me up from my slumber. Thanks for this article. I will mention it to my doctor.
47
Frightening story with a fascinating and comforting conclusion. Mazel Tov!
21
What exactly is happening when the patient feels palpitations but the heart is beating normally?
How is this symptom provoked by pheo-produced hormones? Which hormones?
5
@we Tp increased volume of blood pumped per contraction (ejection fraction) from epinephrine gives an abnormal subjective feeling. her heart rate could have moved from 60 to 90 with increased irregular beats, and still have been 'normal'.
17
Nice job Dr. Sung! Also - A reminder to patients to be proactive, which can be difficult when struggling through these mazes with so many dead ends. Sometimes symptoms aren't this dire, but should still be followed to their diagnoses.
24
@V the combination of a rare disorder and common symptoms are the very hardest diagnoses to make
Pheo was my first guess. Glad it was revealed and cured by an astute cardiologist using all her prior training.
21
@KO I thought immediately of adrenal gland tumor also. I’m a cardiologist.
Exactly, what took so long?
Wow! Good work Dr. Sung!
21
The 5Ps of pheo, pallor pain perspiration palpitation pressure. I guess the step exam does carry real-life importance
55
Interesting comments....the theory on neuroendocrine tumours is that they are extremely rare, and almost always diagnosed very late, when they are large, and when people die.
There is absolutely no population wide evidence to prove that they are rare by the way, which is why neuroendocrine tumours are usually found on autopsy instead of while people are alive.
Pancreatic tumours are very difficult to find on CT and MRI, even if one carefully looks.
Another type of NET, Carcinoids, are often found on the Appendix, and can be fatal when larger than one cm. And almost undetectable by any scan when smaller than that. In the last 10 years, the rate of Appendix cancer, as Carcinoid, has soared, and the rate of death is shockingly high. All since a scientist printed a theory that the Appendix has a reason to exist and contains good bacteria, and surgeons stopped preemptively removing the Appendix, whenever they were in there doing other surgery.
Carcinoid cancers of the Appendix were often discovered by pathologists who looked at the removed appendixes and there is no proof that good bacteria is left in the Appendix or that it does anything helpful, but no one cares. MDs can't go back and admit they were wrong!
It's a tragedy....And I hope all of the patients commenting here live long and wonderful lives. Your good health is a miracle.
37
@Maureen While in her late 40's my mother developed episodes of flushing and tachycardia. She saw several physicians and was told she would feel better if she took estrogen. She was hospitalized (50 years ago) and her chest x-ray showed a mass. At surgery she was found to have a carcinoid. She was fortunate. She is now 96 and doing well. No one knew the diagnosis before surgery. Jo Ann Berlin, Port St Lucie
What is the difference between pheochromocytoma and pseudo-pheochromocytoma? Why do I ask? I was given the second diagnosis after fainting spells/vasovagal syncope and then treated for anxiety. I am not sure if a tumor was ever ruled out. Hmmm. Any thoughts?
15
@EnEsEl Dr. David Goldstein, director of autonomic disorders (neurocardiology) at NIH, has an excellent ebook on autonomic nervous system disorders. I believe he addresses pheochromocytoma and pseudo-pheo in it. There is also a video lecture on Dysautonomia International's website where he mentions pseudo-pheo, but I don't remember which video it is. The ebook is available at this URL: https://americanautonomicsociety.org/dr-david-goldsteins-e-book-principles-of-autonomic-medicine/
8
@EnEsEl a tumor should be ruled out before diagnosing pseudopheo; by a 24 hour urine collection, imaging of the adrenals. a diagnosis of it suggests trying drugs to lower the effect of adrenaline, such as an alpha or beta-blocker.
The unusual symptom I remember with utter clarity to this day was awakening in the middle of a night's sleep knowing I was about to die, with a racing heart and sudden inability to breathe. This was the symptom that persuaded me to persist in looking for answers to what was causing my illness. It takes an enormous amount of tenacity to wade through the pool of physicians in this country who don't know how to think outside the box, or don't care. "Well, you look just fine" was my favorite response from a specialist, who then referred me to a psychiatrist for anxiety. My doctors now are mostly from India, as it was an Indian endocrinologist who finally came up with the correct diagnosis of neuroendocrine tumor. That was many years ago now, but I'm still so incredibly grateful to my doctor for figuring out what was wrong, and knowing how to fix it. I have avoided American doctors whenever possible since then, even though I'm certain they do their best. My experience during that time was mostly abysmal, and I wouldn't wish it on anyone.
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@M Mills the combination of a rare disorder and common symptoms are the very hardest diagnoses to make
I am interested in Pheochromocytoma because my blood pressure can vary widely within an hour, and really isn't controlled by meds. Just yesterday, before, during and after a minor procedure, within two hours my systolic BP went from 170 to 140, then 130 to over 200. So far 24 hour urine collections have been negative twice. What else could it be? Docs who initially are alarmed by the symptoms they see get jaded after a few things don't work. They lose interest, even get annoyed. Like: I tried everything reasonable! Why are you still here?
Well, because I keep getting worse, have more heart failure symptoms, and still don't know why, or what to do. And because I have to work to get what I can from my HMO. I think there are many of us trying hard to fight for our lives.
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@Kathleen
Kathleen, I googled "paroxysmal hypertension" and this came up on Wikipedia. (There were more entries, which I haven't read.) Might be useful?
Paroxysmal hypertension is episodic and volatile high blood pressure, which may be due to stress of any sort, or from a pheochromocytoma, a type of tumor involving the adrenal medulla.
"Patients with paroxysmal hypertension who test negative for pheochromocytoma are said to be suffering from a clinical entity called "pseudopheochromocytoma." This disorder is due to episodic dopamine discharge and has been observed predominantly in hypertensive women whose presentation mimicked pheochromocytoma, but with subsequent testing being negative . . ."
18
@Kathleen i was taught in medical school that blood pressure varies widely during daily activities with spikes up to 300/200 normally.
1
Palpitations and headaches, indicates paroxysmal events with tachycardia and hypertension. The patient would have benefited with ambulatory blood pressure monitoring. I am surprised it was not done.
17
@Leon Stein,
Exactly. This is a reference standard approach to evaluation of abnormal blood pressure readings.
I suspect that many physicians don’t think of ordering a two or three week, continual monitoring of blood pressure, although everyone is aware of such monitoring for rhythm disturbances.
7
When her flight/flight hormones were elevated, was she actually having episodes of accelerated heart rate? If so, why didn’t the monitoring devices register it?
7
@ Randall
Maybe because the tumor on her adrenal glands, along with her young age and recent post partum status and inconsistent chronology of a racing heart and severe headaches all as described symptoms turned this woman’s undiagnosed ailment into one of the “differentials” puzzles that require the dogged pursuit of sub specialists and that so called “outside the box” thinking. Remember the commercial insurance companies and Medicare/Medicaid insurance plans rule or govern healthcare care choices and dictums of care diagnostic choices in an office clinic; which has handcuffed doctors plan of care or additional testing or hunches or outside the box thinking and analysis. There are many good or great doctor’s out there; they’ve been subjugated to a secondary inferior status equal to their highly educated specialized profession. This scrutiny and monetized monitoring happens only to this branch of professionals. Not in law, not at the commercial enterprises, not at your local supermarket or restaurant, etc. The medical industry is run not by doctors or allied support branches, but by the powerful insurance industry and their money hungry lobbyists. Thanks for the Dr Sungs out there and the many handcuffed physicians trying to do their best to diagnose their sick and frustrated patient’s seeking resolution to their sometimes undiagnosed issues.
18
@Lynn Fitzgerald,
Off the cuff (without checking the literature), elevation of bp tends to slow heart rate.
The story DOES note rates up to 140, though in spite of that.
@Stephen Rinsler adrenergic stimulation increases both blood pressure and heart rate.
@Randall, without full access to this patient's chart it's hard to ask pertinent questions. a rate of 99 might be considered normal, but be 39 points above the usual and due to drugs, pheo, etc.
2
A major diagnostic tip that may save your life and get needed help sooner: focus on 24-hour results in testing, where possible. Since pheo symptoms occur in Episodes, rather than present as chronic, much important information may not become available in tests that are snapshots in time.
24 hour urine collection, 24 hour saliva testing kit, even a sleep study in my case provided information that sorted out sleep apnea from a hypertensive crisis that only occurs at night, but was not helped by a C-Pap. Sorry to say, much of the diagnosis venture will have to be sought for and saved by the patient herself. Also, avoid doctors who don't listen. Keep all records and be prepared to persevere! If I am doing this at 80 years old, you can do it too.
71
For heaven's sake--why didn't one of her myriad doctors think to give her a CT scan when they couldn't diagnose her condition in the first place? Seems to me that someone should have thought, "Golly, it actually doesn't seem to be her heart. Maybe we should check out the rest of her--see if anything pops up." That's the trouble with "stovepipe" specialization.
70
@SBG
Wrong. The blood work that should have been ordered but not initially was a hormone panel. Her complaints were a racing heart and severe headaches. The fact that she delivered prematurely and had no bouts of anxiety or post partum depression or abdominal pain or discomfort was a tell in this evaluation. This led the first internist and cardiologist to ignore that she was a post partum patient with a newly existing complaint; undiagnosed by many but post partum considerations wholly ignored until Dr Sung’s evaluation. Where was her OB/Gyn in all of this? Interesting-hey?
17
@SBG,
Imaging studies in the absence of an indication simply aren’t magic.
At least, not yet .
4
The WORST thing you can do is going on a fishing expedition doing CT scans looking for a pheo with no laboratory proof. Incidental, non-functioning adenomas if the adrenal are extremely common.
2
Since we are all learning about pheochromocytoma, I can’t help but add my experience...
As a medical student, I had a heart attack 3 days after my son was born. I was ultimately diagnosed with a pheochromocytoma which was removed 5 weeks later at the Mayo Clinic in MN. My only symptoms had been excessive sweating with activity and intermittent constipation. Turns out my family carries the gene for Von Hippel-Lindau. Now 13 yrs later my son just returned to the Mayo to have his version of a pheochromocytoma- called a paraganglioma removed from just outside from his adrenal gland but adhered to his aorta and diaphragm. His only symptoms were sweating and tachycardia. So, the 24 hr urine has always been positive for family members that have a pheochromocytoma or paraganglioma. There is also a blood test for metanephrines/catecholamines. A CT or MRI are indeed the imaging that need to be done with a positive urine or blood test and then ideally a laparoscopic adrenalectomy should be performed if indeed a tumor is seen. Finally, genetic testing for MEN or VHL at the very least should be performed. I would never have tested my son for anything if I didn’t know that he carried the gene and I had a high suspiscion. As noted in a prior comment, they can become cancer. I can’t help but say that the Mayo Clinic has always been amazing and can recommend consulting Dr. William Young, an endocrinologist at the Mayo if you or your PCP/endocrinologist/surgeon have any questions.
128
When I practiced neurology, one of my colleagues told me that "in the end, it all makes sense." The corollary is that one has to think of a diagnosis in order to make it.
One of the more difficult things to do in medicine is to start over from scratch and not let prior diagnoses bias one's judgment. Many patients don't like to tell their stories again and time spent with patients listening, looking at them, and examining them is not funded nearly as well as doing a procedure.
I would also add to get all the lab tests and imaging studies and not rely on "normal." That bailed me out last month when my physician-wife and I had to deal with her condition. I made the diagnosis from her symptoms alone, but the imaging report didn't fit, until we got the CD of the MR and looked at it ourselves (she once practiced radiology.) Then everything fit.
Finally, years ago, when my mother had a rapidly progressive dementia, we were told her CT was normal. A few months later we discovered she had refused the scan. Yep. The irony is that I had pushed for years for a medical error reporting system like aviation does for its errors, and had gone nowhere. I feel for those with no medical training.
112
I am glad to hear this young woman and her caring doctor saved her. So often doctors do not listen, and often do not care- at least enough to investigate and use valuable time they will not be paid for. Sometimes a doctor does not take the patient’s entire history into account when prescribing medications that will add enormous consequences to pre-existing issues. Pharmaceutical companies leave generous boxes of pills for doctor’s to gift to patients as they prescribe a medication they may know little about. The young mother in this story was persistent, intelligent and courageous, and she lucky to find a doctor who matched her tenacity, and had integrity.
30
Part II
I’ve developed high anxiety over these bizarre symptoms. It was a great relief at last to have a diagnosis and a plan from a PC who cared. She referred me to a Boston Hospital, which required I see an endocrinologist in Rhode Island where I live, before they see me for an evaluation in their endocrine disorders and surgery section of the hospital. Well, the endocrine doctor I saw was skeptical of my PC’s careful testing, and questioned her direction and, to make it worse, the Boston hospital lost my records! My PC relented and didn’t challenge the endocrine doctor on my behalf. She wrote a script for an alpha blocker which helped me get a better night sleep but still has not eliminate my problems. In fact, my symptoms returned after 2 months, and I feel lost. I don’t feel I’m expressing anything much different than what many seriously distressed patients go through on their way through the maze of finding doctors and treatments that can actually solve dangerous syndromes such as mine, and give them their life back. A second round of urine and cortisol tests are in the works. Fingers crossed for an end to this nightmare. Thank you for this story, Dr. Lisa Sanders. You are a beacon of hope.
Linda C. Thomas, MSW, Rhode Island
36
@Linda Collins Thomas, MSW
As a physician who had a pheochromocytoma removed when it was diagnosed after having a heart attack 2 weeks after my son was born and then having just had a paraganglioma (pheo outside the adrenal gland)removed from that now 13 yo son last week- please contact me if you need any help navigating the system and educating your PCP/ endocrinologist. - or follow up with Dr Young at the Mayo Clinic in MN!
39
I’m so sorry for this hard battle Linda. Keep advocating for yourself. Please know that this is happens to others and this experience is not singular. I wish I’d know that. From my own experience, if your symptoms do not fall into a recipe from UpToDate or are too general, it’s a long fight to get answers. Hang in there!
13
@Kelvey Wilson, How kind of you to offer help. I would greatly appreciate any suggestions. It's been a long road with many pot holes! My email contact is: [email protected]. I'm not too tech savvy, but would like to exchange emails as to possible directions and solutions. I think my PCP would be open to support and learning also. Whew, your offer brings tears to my eyes. Thank you so much.
Linda Collins Thomas
21
Western medicine could probably benefit from a more centralized or "whole body" training in medical school. I feel that medical care has become so decentralized with all these varying specialties. It puts patients in a bind when they're clearly suffering but they have no idea which part of their body/system is to blame.
Given that we pay more for medical care than practically anywhere else, I'm quite disappointed in the American medical system, which is substandard when it comes to diagnosing unique and less than obvious diseases and conditions.
62
You have a point to some extent but honestly in a very high percentage of cases presenting with these symptoms cardiovascular problems are the issue. The frustrating part is when you don't fit into the regular algorithm and no one knows what is going on. I am more distressed by the fact that one doctor suggested the patient (a woman) was having anxiety.
27
@Someone I don't know, it's a little surprising they didn't test for hormone problems in the first place. Racing heart - which I have had - is a common symptom of certain (I'm not a doctor, so I don't know which/how many) hormonal conditions. My doctor ran a heart monitor (which showed that I did indeed have a racing heart, although no other abnormalities/arrhythmia) and the first thing she checked were my hormone levels - and yep, I that was the problem. This was also postpartum, and maybe the fact that I had a female doctor made a difference, who knows, but checking hormones was one of her first thoughts.
2
@BlueBird I agree. Hyper-specialisation has its good sides, but leads to silo thinking.
Part impulse, part desperation, I feel I must tell my story after reading about the reality of this patient’s near breakdown while seeking answers and trying her best to believe in herself. For almost two years, I’ve been to specialists, had an enormous amount of lab work, imaging, physical therapy, for unusual symptoms that didn’t seem to add up to a clear diagnosis. Then, one year ago, my new primary care doctor screened me for a pheochromocytoma, which revealed abnormal urine catecholamines, high cortisol at midnight, and a suspicious adenoma on my left adrenal gland. In addition to labile blood pressure which surged during sleep and returned to normal when I got upright and did deep breathing, severe hot flashes and night sweats way beyond menopause, and chronic daytime head pressure, my life began to feel hopeless. I’m a psychotherapist and love my work. But I had to cut my hours in half. Most doctors I’d see for help hinted that my age was creeping up and I couldn’t expect to feel “like I used to” that is, joyful and quite healthy, until these symptoms blotted out my hope. I feel I speak for many.
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@Linda Collins Thomas, MSW
Be thoroughly tested for Cushing’s as well, thoroughly being the key word.
Nightmare of a disease, less rare than people think, high cortisol is a marker.
Good luck.
7
We are doomed to be passed around until, by pure luck, we encounter a doctor who will practice medicine. I don't have much faith in doctors any more. Sad.
127
@Mike We are not being 'passed around' waiting for someone to practice medicine. All the physicians in this narrative tried to find a cause of the patient's (mostly invisible) problem. 40 years ago, getting the C-T scan would have been difficult, and there has been ongoing study about pheo and the side effects. While the symptoms were very disturbing to the patient, they didn't show up like a big, red rash that was being ignored, and the article mentions testing and cardiology studies. Several responsible adults made an effort to help this lady, and probably each of them is better able to help the next patient who presents with such obscure symptoms. This article will also inform other physicians who will have a thought of pheo as a possible cause.
16
Nor should you!
@Delee Since the patient bounced from one doc to another ... my hunch is that none of these docs tracked the patient for very long unless they had the time and were keenly interested. I bet they learned nothing from this experience ... learned nothing about what they had missed. I might also add that the medical system has no financial incentive/reward for tracking patients ...
19
such an amazing story! so glad that she pushed to keep finding something. sad it took so long though.
18
I'm surprised the patient was sent for CT scan (radiation) instead of ultrasound of the adrenals. When I had some symptoms years ago an adrenal ultrasound was used to rule out a tumor in my case. Ultrasound is safer than radiation, and probably also much cheaper.
7
I am an endocrinologist. An ultrasound is not the appropriate imaging study to rule out adrenal masses. They are not as accurate and masses can be missed. A ct scan is the correct choice.
162
Remember years ago when companies were pushing whole body scans, which most insurance companies do not cover? I imagine it would have caught a "lime" sized tumor in the body, which is not small. I am surprised that no doctor thought of this.
22
@Douglas Ritter
Are you suggesting that doing whole body scans in the absence of symptoms is a good idea? Because that is what they were suggesting, and it is a terrible idea. Then number of false positives (Looks like something is there when it isn't) in asymptomatic people is surprisingly high, and leads to much greater anxiety and expense in additional diagnostic and even unnecessary medical/surgical care. I am not saying a CT wasn't indicated in this case, but the best and most effective testing is still done with a good diagnostician (who may be aided by AI) making the calls.
12
@Douglas Ritter,
My wife currently gets a brain MRI every two years. Why? Because she had an MRI which was negative, but revealed an “incidentaloma”.
Every imaging study has the potential to reveal such findings, whose interpretation is unknown.
The American College of Radiology publishes guidelines for which incidentalomas to follow up, but there is a lot of head scratching (and repeat studies) involved.
So, currently, it is better to have a good reason for ordering an imaging study (and most other things ).
I take it pheochromocytomas are non-malignant?
4
@Nikki No they are not. My nephew died from pheochromocytoma which had metastasized throughout his body. At age 20 he developed high blood pressure. His doctor could find no cause and just put him on BP meds for life. In his 30's when he was having what seemed to be anxiety symptoms (with no discernible cause) and pain in his back, he was sent for physical therapy. When the pain got worse and the PT said there was nothing more he could do, he asked for an MRI but the doctor said the insurance company would not approve an MRI. It wasn't until he fell down in the waiting room and couldn't get up that the doctor rushed him to the hospital for an MRI. He had emergency surgery that night to remove a tumor on his spine. It was then they discovered he had numerous tumors including adrenal gland (on top of the remnants of one kidney) and pheochromocytoma was diagnosed. He lived 2 more years with a long surgery recovery with a clam-shell brace until they could put a rod in his back, then radiation and weekly visits to the oncologist (and several emergency room visits vomiting blood). He died from breathing complications after a successful surgery to remove yet another tumor. That was in 2001. Thankfully today doctors seem to have gotten better at diagnosing pheo.
97
@Val so very sorry your nephew had to go through this and also for your loss.
64
Can a 24 hr urine catecholamine test (non refrigerated) comeback negative if it’s not a tumor?
3
This tumor secreted its hormone(s) episodically. If there was no event in that 24 hr window, the test would have been negative. An option is to have the patient collect a spot specimen just after the event. This can often help point towards a pheo.
32
There are stimulatory tests but these can be dangerous and should only be done by very experienced tertiary centers. The WORST thing to do is start getting CT scans of the adrenals with no chemical proof of pheo as many people have harmless “lumps” on the adrenal.
1
Interesting, but too easy.
3
What an awful and terrifying experience. When a terrible medical condition develops one can't help but wonder whether they will have to endure it for the rest of their life. Then going through the gantlet of tests and specialists and process and waiting and trying to be heard and and insurance and dead ends, fearing that no one will diagnose it properly, thus eliminating all hope. Crying seems to be all one can do.
81
I am not a doctor, but had a hunch that her pregnancy triggered an endocrine related issue.........and hormone testing should have been done asap.
52
@Ying Yang Pregnancy is certainly related to a variety of endocrin issues but I do not think it is a risk factor for developing pheochromocytoma, however.
7
Something similar happened to me, seemingly out of the blue. It turned out to be related to my IUD, which I had recently replaced. It took 6 months to get back to normal but eventually I did. The prevailing theory is that the synthetic progesterone messed up my hormonal balance and triggered horrible bouts of anxiety, which I had never had before in my life (I'm 43). It comes back (though minor) monthly on a PMS-like cycle. But it is the most horrible, wretched feeling and I sympathize greatly with the woman in the article. I'm glad they figured it out (eventually). I did a lot of research and knew that this type of tumor could have been an option. For me, it was also my cardiologist that figured it out because he had seen a significant number of women similar to me with the same problem. I felt my primary care doctor was a little too quick to chalk it up to something "women of a certain age" just experience.
147
Pheochromocytomas can be part of Multiple Endocrine Neoplasia syndromes. The patient should go back to her endocrinologist for further work up.
45
@turbot Absolutely correct!!!
13
Yes! American society of endocrinology recommends genetic testing for anyone with a pheochromocytoma or extra adrenal tumor (paraganglioma). MEN and VHL both imply other health risks than benefit from increased surveillance or other interventions!
13
Kudos to the doctor who didn't stop trying to help just because a test came back normal. Having a medical professional in your corner when dealing with unexplained symptoms is a huge relief.
260
I don't have much to add to discussion below as I am no doc.
But a note of thanks for getting me medical education that my mother thought I should become a doc at one time.
I became an oil patch engineer - with 4 plus decades under my belt - we had many similar problems with our equipment?
It was telling us something but we thought it's symptoms were not it's problems. And in many instances, led to some more serious issues.
All in all - I am glad this patient has a doctor who decided to stick with her.
26
The vomiting and headaches made me think of a possible neurologic disorder but partway in -- before the diagnosis was revealed-- I already sensed the diagnosis would be a pheochromocytoma.
However, I don't think this is actually any brilliance on my part. Every doctor learns about this disorder when learning about possible causes for high blood pressure. I think what makes these diagnoses easier in hindsight is that the history, labs, and tests are already pre-arranged for perusal unlike the real environment of the clinic, when time and other pressures often make it more difficult to come to an accurate diagnosis quickly.
37
Sorry but something is amiss. I am sure someone checked her blood pressure. True, I am an endocrinologist and a pheo was an obvious possibility (serotonin shouldn't have been the first hormone to be measured). Some thirty years ago a doctor, an anesthesiologist, published a short description of her own symptoms (almost identical to the ones in this case). She was also seen by several specialists, she was also treated for anxiety, in the end she made the diagnosis of a pheochromocytoma herself...
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@Raffi Is it possible no one checked her blood pressure while she was having an "attack"? Or do people with pheos present regularly with high blood pressure even when other symptoms are absent? Asking as a generalist.
I think the cardiologist attempting to provoke her symptoms is key. For patient complaints of "dizziness" for example, provoking symptoms via positioning or hyperventilating is helpful to get to the right diagnosis.
As I get on, I realize timing is a large part of diagnosis: if patients say they have some temporary event (e.g. rash, tremor, etc.), I now get them to take pictures of it or record it on video as by the time they see me, sometimes, the associated physical finding is absent. This has helped me nail a few diagnoses.
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@Raffi perhaps the attacks had dissipated by the time of her arrival at the ER. Hypertension can come and go as a result of many different things.
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The adrenaline rush was the big clue. Interesting, but too easy.
Seriously.
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What's discouraging about this is that several doctors didn't trust the patient, who knew her symptoms were physical. So she had to endure months more of misery than had someone taken her seriously to start with and looked for causes other than a heart arrythmia.
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@Katz "Several doctors"? Where did you get this from? The report only mentions one doctor who ascribed her issues to anxiety, and this was only after the doctor gave her a bunch of test that all came out negative. For the rest, all that's said is that several doctors came up with various theories, tried a lot of different tests, and they all came back negative.
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@Katz
Ha! I go to one doctor and tell him "my thyroid hurts". "No it doesn't" is his reply. I go to another doctor and say "my legs are swollen" and his reply: "no they're not". The third doctor says I have a thyroid condition, (which turned out to be true) but when I tell her about the correlation between the food I eat and the effect on my thyroid, she says: "no it doesn't". So I go to a kinesiologist for medical help and am doing fine.
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@Ravenna,
You might enjoy a physician who says “it depends”, and then reviews the medical literature with you.
If she/he had the time and you had the patience .
I think it involves having the time to have long conversations.
I volunteer as a physician in a local free clinic and take easily an hour with a patient. In my experience (here and previously in private practice), most patients don’t enjoy long discussions, and like to get simple answers.
I believe many physicians have accepted that they need to give simple, declarative answers to patients.
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