The liver in hereditary hemorrhagic telangiectasia (Weber-Rendu-Osler disease)

Abstract

Background: Hereditary hemorrhagic telangiectasia (HHT, Osler disease) is an inborn error in the structure of different vessels. This leads to vascular malformations in multiple organ systems. In the liver vascular abnormalities are associated with a marked fibrosis and/or cirrhosis.

Methods and results: We found hepatic manifestation of Osler disease in four women and one man (51-63 years old) presenting initially with slight disturbances of liver function. In three patients progressive liver insufficiency developed. The characteristic histologic and sonographic findings are described and discussed.

Conclusion: Ultrasonography with color and Doppler analysis is diagnostic, replacing more extensive procedures like angiography, computer tomography, or magnetic resonance tomography.