Liver disease in patients with hereditary hemorrhagic telangiectasia.

Background: Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber dis ease, is an autosomal dominant disorder characterized by angiodysplastic le sions (telangiectases and arteriovenous malformations) that affect many org ans. Liver involvement in patients with this disease has not been fully cha racterized. Methods: We studied the clinical findings and results of hemodynamic, angio graphic, and imaging studies in 19 patients with hereditary hemorrhagic tel angiectasia and symptomatic liver involvement. Results: We evaluated 14 women and 5 men who ranged in age from 34 to 74 ye ars. All but one of the patients had a hyperdynamic circulation (cardiac in dex, 4.2 to 7.3 liters per minute per square meter of body-surface area). I n eight patients, the clinical findings were consistent with the presence o f high-output heart failure. The cardiac index and pulmonary-capillary wedg e pressure were elevated in the six patients in whom these measurements wer e performed. After a median period of 24 months, the condition of three of the eight patients had improved, four were in stable condition with medical therapy, and one had died. Six patients had manifestations of portal hyper tension such as ascites or variceal bleeding. The hepatic sinusoidal pressu re was elevated in the four patients in whom it was measured. After a media n period of 19 months, the condition of two of the six patients had improve d, and the other four had died. Five patients had manifestations of biliary disease, such as an elevated alkaline phosphatase level and abnormalities on bile duct imaging. After a median period of 30 months, the condition of two of the five had improved, the condition of one was unchanged, heart fai lure had developed in one, and one had died after an unsuccessful attempt a t liver transplantation. Conclusions: In patients with hereditary hemorrhagic telangiectasia and sym ptomatic liver involvement, the typical clinical presentations include high -output heart failure, portal hypertension, and biliary disease. (N Engl J Med 2000;343:931-6.) (C)2000, Massachusetts Medical Society.