Monday, April 5, 2010

Say Ahhh

The tongue shown here belongs to a 25 year old woman presenting to a primary care doctor. She recently got health insurance because of the new healthcare reform bill. Yay! She has no complaints. She is otherwise healthy, but had a lot of spontaneous recurrent nosebleeds in childhood. She takes no medications. She has a family history of embolic strokes (including one from a deep vein thrombosis in someone without a heart defect), recurrent GI bleeds, and cerebral abscess in every generation of her father's side. She does not smoke or do drugs, and she only drinks occasionally. She lives with her cat and works at the supermarket.

Her physical exam is normal except for the finding shown above and a rectal exam that is positive for occult blood in the stool. Because of that, you send some basic labs which show a microcytic anemia. Wow! This was totally unexpected. You just made an important diagnosis because more people have health insurance and can see a doctor due to the healthcare reform bill.

Challenge: This syndrome has two names, each of which has three words. What is it?

Image shown under Fair Use.


Jin said...

Hello! First time posting. My guess: thrombotic thrombocytopenic purpura/hemolytic uremic syndrome

Craig Chen said...

Interesting! TTP/HUS is definitely on the differential, esp. if the anemia is microangiopathic with schistocytes. of course, the pentad is: MAHA, low plts, renal, neuro, fever. Here, I was thinking of hereditary hemorrhagic telangiectasia.
Say Ahhh

This is hereditary hemorrhagic telangiectasia or Osler-Rendu-Weber syndrome which has an autosomal dominant inheritance. The presentation includes the constellation of epistaxis, GI bleed, iron deficiency anemia, mucocutaneous telangiectasias, and arteriovenous malformations (angiodysplasis) in the pulmonary, hepatic, and cerebral circulations. The family history of a paradoxical embolism is due to a pulmonary AVM which allows a venous clot to bypass the pulmonary capillary system and cross to the arterial side.

Sources: UpToDate;