Portal hypertension and Rendu-Osler-Weber disease

Background: Rendu-Osler-Weber disease is an autosomal dominant disease, characterized by widespread telangiectasia that can affect the skin, mucous membranes and many organs. The prevalence of liver involvement in patients with Rendu-Osler-Weber disease classically ranges from 8 to 31%, caused by vascular malformations which can be complicated by portal hypertension. Case report: M. N.Z, a 40-year-old patient with familial and personal hemorrhagic antecedents was hospitalised in 2003 for severe anaemia. The clinical examination found telangiectases in skin and mucous membranes, hepatomegaly, splenomegaly, oedema and ascites. Abdominal sonography showed a homogeneous hepatosplenomegaly, ascites and an enlarged common hepatic artery. Doppler ultrasonography showed the presence of shunting between hepatic artery and portal vein. The ascites was rivalta negative. The upper digestive endoscopy showed stage II oesophageal varices and D1 telangiectasia. The patient received propranolol 160 mg/l and a diuretic. The patient developed refractory ascites and anaemia which required puncture, albuminotherapy and blood transfusions. The patient died six months later. Discussion and conclusion: Hepatic vascular malformations in Rendu-Osler-Weber disease are generally asymptomatic. However, portal hypertension, as in our case, or severe biliary complications are possible. Doppler ultrasonography enables a diagnosis to be made. Liver transplant is the definitive treatment in cases of cardiac failure, biliary necrosis and/or portal hypertension.