Hereditary hemorrhagic telangiectasis (Osler Weber Rendu) Flashcards
1
Q
Hereditary Hemorrhagic telangiectasis (osler weber rendu)
A
- AD mutation of HHT1 (Endoglin) or HHT2 (ALK1)
- presents with recurrent epistaxis
- telangiectasis in mouth!
- CNS, GI and pulmonary AVM’s
- normal life span
