• | AKA hereditary hemorrhagic telangiectasia |
• | pathogenesis = a mutation in endoglin ( a TGF-b binding protein on endothelial cells) |
clinical:
• | begins with recurrent epistaxis in childhood |
• | second and third decade: telangiectasias on vermilion border, face, palms and soles |
• | GI – telangiectasias with secondary GI bleeds |
• | pulmonary – AV fistulas which may be complicated by hemorrhage or cerebral abscesses |
• | work up = CXR, CBC, guiac, scope |
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