Neglected Diagnoses: Putting you at risk!

I have decided to let the rest of the Forbes article analysis rest for today. Instead I wish to relay to you a story which deeply troubled me.

Today I saw a patient that was referred to me for the diagnosis of Osler Weber Rendu. Also Known As Hereditary Hemorrhagic Telangiectasia (HHT). What blew me away was not that it was picked up. Although alot of physicians may miss this if they fail to look in a mouth or carefully investigate nose bleeding in a patient. Trust me, these 2 things are very, very commonplace in medicine.

But what flabbergasted me was that this patient had all over his chart "May have Osler Weber Rendu"

So you may be asking yourself...Why does this matter? The answer is forthcoming. First a little bit about HHT. There are 3 types of this disease

• Type 1 is due to a mutation in the gene endoglin, there are significant problems including masses of maldeveloped blood vessels in the body. The worrisome ones are located in the brain and lungs. If these bleed, then you can have some really bad problems including death


• Type 2 is due to a mutation in the gene ACVRL1 and often have involvement of the liver. Unfortunately these patients need liver transplantation.


• Type 3 is not associated with a gene mutation........Yet

The outcome in most of these diseases if left untreated is death. Either by heart failure, liver failure, or bleed in your brain.

My point and why I am so frustrated is that you can detect these AVMs and treat them BEFORE you get the horrible outcomes!!!! How? MRI of the head, CT scan of the chest, Abdominal ultrasound, and Echocardiogram.

When I spoke with the referring physician and asked why none of these studies had been done. "The answer was I didn't know to do that, neither did my colleague. I thought these things only happened in childhood. Shouldn't it have been done there?" My response was......"well you should do it now and adults have genes too." This man has a daughter and grandaughter, he has familial implications that could have been addressed prior to the birth of his grandaughter.

The Sherpa Says: No you do not have HHT if you have a nosebleed.....But you might if you have funny things on your tongue and chronic nosebleeds. Please don't assume your doctor knows how to do the right thing. Be proactive, take charge of your healthcare. And if you need to email the Sherpa.