Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations

Abstract

Study Purpose: To formulate recommendations about clinical management of liver involvement in hereditary hemorrhagic telangiectasia (HHT), using a formal consensus development process. Consensus Process: A nominal group technique was used. A list of main clinical, diagnostic and therapeutic issues about liver involvement in HHT was generated by the organizing committee. Panel members then scored their agreement with each statement; the median score, and standard deviation for each statement were determined for each of the three successive panel rounds. These consensus statements formed the basis for recommendations graded with the strength and quality of supporting evidence. Recommendation Statements: Doppler US is sufficiently accurate and suitable for first-line imaging of the liver in the general HHT population. Liver biopsy in any patient with proven or suspected HHT should be avoided. Liver involvement in HHT is generally asymptomatic; in the minority of patients where it is symptomatic, morbidity and mortality can be substantial. The prevalence of focal nodular hyperplasia is much higher in patients with liver involvement by HHT than in the general population. Invasive therapies for liver involvement by HHT (namely liver transplantation) should be considered only in patients who have failed to respond to intensive medical therapy.

Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences

“…8 One important issue is thus to specify which patients should undergo hepatic screening. Our work suggests that the best predictors of liver involvement are the presence of ACVRL1 mutations and abnormal liver biology, with 89% sensitivity of the coupled criteria.…”

“…DS identified hepatic nodules compatible with FNH in 14 patients in this series (13.7 %), all of them women. The mean number of lesions per patient was 3.5 (range, [1][2][3][4][5][6][7][8][9][10][11][12], and the mean maximum diameter per patient was 49 mm (range, 10-90 mm). A nuclear magnetic resonance examination was performed in 11 cases and confirmed the presence of one or more nodule compatible with FNH in 10 cases.…”

“…Previous, mostly small series have shown Doppler sonography (DS) abnormalities in 30% to 70% of HHT patients. 8,9 Early and advanced DS findings include (1) enlargement, increased flow velocity, and tortuosity of hepatic artery branches; (2) increased diameter and flow velocity in he-patic veins; and (3) modification of portal flow. 6,10 Computed tomography may also show very characteristic diffuse intrahepatic telangiectases and early opacification of the hepatic or portal veins indicating arteriovenous shunting.…”

“…Previous, mostly small series have shown Doppler sonography (DS) abnormalities in 30% to 70% of HHT patients. 8,9 Early and advanced DS findings include (1) enlargement, increased flow velocity, and tortuosity of hepatic artery branches; (2) increased diameter and flow velocity in he- …”

A woman with chronic anemia and cholestatic liver disease #

“…[1][2][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.…”