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Previous Volume 343:931-936 September 28, 2000 Number 13 Next

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ABSTRACT

Background Hereditary hemorrhagic telangiectasia, or Rendu–Osler–Weber disease, is an autosomal dominant disorder characterized by angiodysplastic lesions (telangiectases and arteriovenous malformations) that affect many organs. Liver involvement in patients with this disease has not been fully characterized.

Methods We studied the clinical findings and results of hemodynamic, angiographic, and imaging studies in 19 patients with hereditary hemorrhagic telangiectasia and symptomatic liver involvement.

Results We evaluated 14 women and 5 men who ranged in age from 34 to 74 years. All but one of the patients had a hyperdynamic circulation (cardiac index, 4.2 to 7.3 liters per minute per square meter of body-surface area). In eight patients, the clinical findings were consistent with the presence of high-output heart failure. The cardiac index and pulmonary-capillary wedge pressure were elevated in the six patients in whom these measurements were 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 hypertension such as ascites or variceal bleeding. The hepatic sinusoidal pressure was elevated in the four patients in whom it was measured. After a median period of 19 months, the condition of two of the six patients had improved, 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 failure had developed in one, and one had died after an unsuccessful attempt at liver transplantation.

Conclusions In patients with hereditary hemorrhagic telangiectasia and symptomatic liver involvement, the typical clinical presentations include high-output heart failure, portal hypertension, and biliary disease.

Source Information

From the Department of Internal Medicine, Divisions of Digestive Diseases (G.G.-T., J.R.K.) and Cardiology (L.Y.), the Department of Diagnostic Radiology (K.J.H., B.B., J.S.P., R.I.W.), and the Department of Pathology (D.J.), Yale University School of Medicine, New Haven, Conn. Presented as a poster at the annual meeting of the American Association for the Study of Liver Diseases, Chicago, November 6–10, 1998.

Address reprint requests to Dr. Garcia-Tsao at the Division of Digestive Diseases, Yale University School of Medicine, 333 Cedar St., P.O. Box 3333, New Haven, CT 06520, or at guadalupe.garcia-tsao{at}yale.edu.

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