Why Was This Teenager Bleeding So Excessively?

My father was prone to having nosebleeds until he had the mother of all nosebleeds--he required a transfusion of 8 pints of blood. he had to be transferred on a ventilator to another hospital where they performed an embolization of his maxillary artery. He was OK after that but developed a sinus condition called Ozena because he lost blood flow to his sinuses.

As a physician with HHT, I would highly recommend that anyone with questions, concerns or possible diagnosis of HHT, first access the CURE HHT website. There you will find a wealth of information about the disease. You will also find a list of dedicated HHT centers throughout the United States and Europe. These centers are led by physicians who are highly knowledgeable about HHT, and provide specialized care for patients with HHT. This is especially important in children who have nosebleeds of unknown etiology. It should be noted that nearly 95% of patients with HHT go undiagnosed. This is clearly a disease in which you must become your own greatest advocate.

Its good to hear that the medical system worked the way it should, and this girl was transported from Newark Beth Israel to Yale New Haven for the surgical procedure. I had the unfortunate experience of arriving at a local community hospital with a large pituitary tumor that I didn't know about, and the neurosurgeon associated with the hospital had the misguided confidence to think he could actually successfully remove it. The community hospital surgeon entered my head at the wrong angle; missed the tumor altogether; permanently damaged my olfactory system; started a CSF leak; and I was there for almost two weeks before I was sent finally by ambulance to UCSF, where there is a neurosurgery unit that specializes in these surguries. I don't know how the surgeon at the local community hospital had the hubris to think he could remove the large tumor in my head. He couldn't even locate it. I'm glad the folks at Beth Israel had better sense than the surgeon I had.

Sir William Osler tended to atribute various symptoms to one diagnosis. I would agree with Osler. The cardiac issues are secondary to the significant bleeding, resulting in hypotendion and a near cardiac arrest. EKGs are normal in 50% of cardiac myocardial infarctions. These added descriptions though interesting should not cloud the primary diagnosis.

Advanced imaging modalities have revolutionized the way doctors practice medicine. MR angiography,Pet scanning, high field strength for Orthopedic diagnosis. The training and availability of CPR and AEDs have saved many lives. This young lady profiled would have been dead years ago. Articles like this help immensely to educate the public.

Important correction - Her children will have a 50/50 chance of inheriting the mutation ONLY if it was also in her germ line cells. This sounds like it could be a somatic mutation, which can not be inherited.

You might also want to note the name of the doctor who recognized the problem, Dr Phatak, one of the people Trump would like to get rid of in his quest to make America white again.

HHT runs in my family-although my parents always referred to it by its other name, Osler-Weber-Rendu disease. My paternal grandfather, father, aunt, and brother have it. The good news is that life expectancy in HHT is, on average, normal, and expression of the disease varies from generation to generation. So one does not necessarily need to dread having a child with the condition.

Wow, what an amazing story with a great outcome. Thanks for reporting it.

If she has nosebleeds frequently, doesn't that suggest that she has a vascular malformation (from this disease) up her nose, that might be located and cauterized or otherwise obliterated?

A huge shout out to this young woman's high school friend who quickly recognized an acute medical crisis and took action. When I think back to the group of people with whom I had a regular study group in high school all of them would have been aware enough to call 911, but I am not sure if any of them would have had the training or emotional maturity to start CPR. Her friend is a big hero in this story.

I’m a married 32 year old and was diagnosed with HHT a few years ago. I’m the third generation (I know of) who has it. Symptoms didn’t present until my mid-20s which I’m so utterly grateful for because this disease is terrible. When I was diagnosed I was living in Chicago - my last year there included a winter with subzero temps and windchills of -50. I was having multiple severe nosebleeds a day everywhere I went, undoubtedly aggravated by this cold, dry air. I would lean over the sink in my bathroom to get them to stop and when they finally did - sometimes after a full hour - it looked like someone had been massacred. The blood loss exhausted me and I was constantly fatigued. It felt like I lost 10000000 layers of skin on my nose from all the tissues (and toilet paper when I ran out). But come summer, I got engaged and moved to Florida. I cannot begin to explain how vastly my health has improved. It was the best decision of my life and I could not be more grateful. I only get a nosebleed maybe every other month and it’s definitely triggered by the weather. It’s also not nearly as severe as when I was up north. But, as another commenter noted, having children and knowing how it could impact them is a daily mental struggle. My husband and I want kids but I’m having a very hard time with it especially after reading research on how it could affect me while pregnant. Doctors know so little, and definitely aren’t specialized to women/pregnancy. THANK YOU for this article!!!

I had this same embolization done last year. It was a complication of aspergillosis in the lung. Luckily my pulmonologist ordered an MRI with radioactive contrast which illuminated the malformation built over several (about 4-5) years due to the lung fungus in one lung. Your doctor (specialist) needs to be knowledgeable. The weak connection between the vein and artery could disconnect at any time. You suffocate from blood in the lung in about ten minutes.

God Bless the American Medical Community and these dedicated experts who provide us the BEST CARE any one can expect in the world. And, May God Bless this young woman.

Excellent report of the value of investigative studies, in this case requiring the bleeding episode a second time to occur. Of note, another relatively frequent condition, a brain aneurysm, may occur if the clinician is astute enough to study with a magnetic resonance angiogram anybody with sudden severe headaches, especially if combined with loss of consciousness. It would be egregious that, in this day and age, we wouldn't want to know why we have symptoms out of the blue, and life threatening sometimes, without taking preventive action.

I love these medical detective stories. They educate us on the mysteries of the human body and the wonders of diagnostic medicine.

if the hereditary risk is 50/50, is it suggested not to have children? an ethical dilemma no doubt and would be an interesting health section article. a prominent sports broadcaster faced this dilemma if i recall correctly and chose to have children. as a result they were born without functioning hands. someone I know faced a remote hereditary risk for a malformation and a similar ethical dilemma for having children. not an easy choice. Thank goodness this family in this article had the resources and access that the gift of modern medicine provides when attainable.

I want to thank the NYT for publishing this article. Thank you, Lisa Sanders, MD. As a person who had HHT every bit of information disseminated about this disease has the potential to save lives; either through educating a medical professional or a patient or both. It’s so difficult to find medical professionals who are aware let alone knowledgeable or experienced in the care required. I also want to thanks CureHHT without whom I would have a much lower quality of life. Thank you, Maryanne Clancy!

It is not unheard of for HHT patients to have AV malformations in locations outside of the lungs. Epistaxis may indicate a nasal or sinus AVM. Additional imaging could easily depict a second or even third vascular tangle.

The N.J. cardiologist said the patient's heart eventually "stopped" after beating "abnormally". It is unlikely her heart "stopped", or was in asystole, at any time, as de-fibrillation is not successful in re-establishing cardiac activity in asystole. she was most likely in ventricular fibrillation, caused by severe blood loss, and thus was successfully de-fibrillated by the fortunately available AED. Bystanders and medical professionals attempting to feel a pulse in these cases most often can't tell if the patient is fibrillating(usually the case in adults), or if the heart truly has stopped. A monitoring device or AED needs to differentiate. AED's are more frequently found now, in airports and wherever. They can and do save lives in such circumstances. Emergency/trauma M.D.

This girl is a survivor. Good for her!

This is a fascinating story! One of the joy reading NY Times article.

Thank you for highlighting this important story. Cure HHT is the advocacy organization and we appreciate increasing awareness of this "silent disease" known for nosebleeds as the symptom. These AVM's internally are extremely dangerous when they occur in the brain, lung and liver which can lead to heart failure.

Thank you. This is the second time you've written about HHT, helping to spread awareness to a woefully undereducated medical community. We have 6 generations who have had this genetic disease: my great grandmother, grandmother, aunt, mother, me, my daughter, my 11-year-old grandson. Because of your reporting, my grandson may have a chance to lead a healthy and productive life.