Hepatic involvement in hereditary hemorrhagic telangiectasia

M. Oster (Hereditary Hemorrhagic Telangiectasia, HHT) is an autosomal domin ant inherited disease, with various vascular malformations. The genetic cau se of this disease lies in different defects of transmembrane proteins (end oglin, activin receptor like-kinase 1) that can be defined as components of the receptor complex for transforming growth factor beta (TGF beta). Vascular malformations include the gastrointestinal tract and especially th e liver. The location of mutations encoding hepatic involvement of M. Osler still remains unknown. These vascular malformations may lead to different shunts in the liver and can result to different complications like card iac-insufficiency, portal h ypertension and hepatic encephalopathy in adulthood. Color Doppler sonography is the method of choice for screening patients wit h M. Oster-suspected of having hepatic involvement. As in rare events conservative treatment of complications of hepatic involv ement fail, embolization of the hepatic artery as minimal invasive therapy, surgical ligation of the A. hepatica and liver transplantation are possibl e treatment options. As there are only limited experiences with these thera peutic procedures patients with liver involvement should be treated at a ce nter, where all therapy options are available.