A 35-year-old woman was found to have abnormal liver chemistry tests during a hospitalization for right-sided abdominal pain. The serum bilirubin was 1.2 mg/dL, alkaline phosphatase was 355 U/L, and the aminotransferases, albumin, and prothrombin time were normal. The patient previously had two episodes of hematochezia that she ascribed to hemorrhoids and also suffered from iron-deficiency anemia. There was no family history of liver disease but she had a sister who died of a brain abscess. Computed tomography scan showed significant hepatomegaly (liver weight, 2600 g), diffuse perfusion abnormalities, and saccular dilatations within the biliary tree. Physical examination demonstrated multiple telangiectases on the face; a diagnosis of hereditary hemorrhagic telangiectasia (HHT) was made. Within 3 years, the patient went on to develop high-output cardiac failure that was unresponsive to medical and radiologic treatment and she underwent successful liver transplantation.
Figure 1 is the explanted liver showing multiple cystically dilated areas filled with bile (asterisks). Also seen are vascular mass-like lesions seen grossly as hyperemic and hemorrhagic areas (arrows). Figure 2 is a representative section of the liver showing a honeycomb meshwork of dilated sinusoidal channels lined by endothelial cells in between cords of hepatocytes (hematoxylin and eosin stain, original magnification ×200). Figure 3 shows dilated vessels in periportal areas (asterisks) indicative of vascular malformation (Masson trichrome stain, original magnification ×40).1
HHT (Osler-Rendu-Weber disease) is an autosomal dominant disease characterized by mucocutaneous and visceral telangiectases. Patients may suffer from high-output cardiac failure, chronic anemia due to gastrointestinal blood loss and rarely, brain abscess due to pulmonary arteriovenous malformation. The liver is affected by vascular malformations that may produce arteriovenous, arterioportal, or portovenous shunting. Arteriovenous shunting may cause biliary ischemia with subsequent bile duct necrosis and sclerosing cholangitis, while arterioportal shunting may result in symptomatic portal hypertension.2, 3 Hepatic vascular lesions in HHT range from tiny telangiectases to large confluent vascular masses and marked dilatation of the hepatic artery. Perfusional changes within the liver may lead to nodular regenerative hyperplasia and focal nodular hyperplasia. The majority of patients with HHT have a hyperdynamic circulation that eventually leads to heart failure; sinusoidal portal hypertension is found on hepatic vein catheterization. Increased sinusoidal blood flow may lead to increased fibrosis and nodularity with nodular transformation of the liver (pseudocirrhosis). Hypoperfusion of the peribiliary plexus may lead to ischemic necrosis of the bile ducts and stricturing as well as the formation of cysts that contain bile. Liver biopsy is not indicated in patients with HHT suspected of having hepatic involvement because of a potential risk for bleeding.1–3
Treatment is symptomatic relief of the portal hypertension, transarterial embolization of liver arteriovenous malformations in the setting of high-output cardiac failure, and medical therapy for cholangitis.4 Liver transplantation is indicated in patients with chronic biliary disease and in those with intractable high-output cardiac failure or refractory portal hypertension.5 The clinical manifestations of hepatic involvement in HHT may overlap and fluctuate over time.2