By Disease Name > Osler Weber Rendu Syndrome

Osler Weber Rendu Syndrome

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AKA hereditary hemorrhagic telangiectasia
autosomal dominant
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
fifth decade:
GI telangiectasias with secondary GI bleeds
pulmonary AV fistulas which may be complicated by hemorrhage or cerebral abscesses
work up = CXR, CBC, guiac, scope