Hepatic sonography in patients with hereditary hemorrhagic telangiectasia hospitalized for epistaxis

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by the presence of telangiectasias and arteriovenous malformations in various organs and organ systems, including the liver. The most frequent clinical manifestation of HHT is epistaxis. In 2010 (JanuaryeDecember inclusive) 51 patients with HHT were admitted to the ENT ward of our hospital for epistaxis, and in accordance with routine protocols, all 51 underwent abdominal ultrasonography in our department to detect hepatovascular lesions. They included 27 males (53%) and 24 (47%) females ranging in age from 11 to 86 years (mean 48.5 years). The sample was selected in an arbitrary manner to take maximum advantage of the hospital stay and monitor patients from regions other than our own. Retrospective analysis of the findings from these sonographic examinations revealed hepatic HHT in 27 (53%) of the 51 patients. Nineteen (70%) of these (age range 40e86 years, mean 63) had vascular malformations of various dimensions but no portal hypertension; the other eight (30%) (age range 39e81 years, mean 60) had vascular malformations plus portal hypertension. Our retrospective analysis indicates that a significant number of patients can have unrecognized hepatic involvement; that the appearance of hepatic lesions can be fairly unpredictable, even when the HHT has been diagnosed for years and the patients are already symptomatic; and that the hepatic lesions are frequently progressive. Therefore, regular sonographic follow-up is advisable for patients with HHT. The limitations of this study are related to the small number of patients examined and to the fact that all of them were symptomatic. Further study is therefore needed (especially in asymptomatic patients) to define the indications for hepatic sonography and the optimum examination schedule. Sommario La telangectasia emorragica ereditaria è una malattia autosomica dominante caratterizzata dalla presenza di telangectasie e di malformazioni artero-venose in vari organi e apparati. La sua manifestazione clinica più frequente è l'epistassi. Nel 2010 (gennaio-dicembre inclusi) 51 pazienti sono stati ricoverati nel reparto di otorinolaringoiatria (ORL) del nostro ospedale per epistassi e, secondo la loro prassi, tutti i 51 pazienti sono stati sottoposti a ecografia dell'addome nel nostro reparto per la ricerca di lesioni epatiche. Il campione era costituito da 27 maschi (53%) e 24 (47%) femmine, di età compresa tra 11 e 86 anni (media 48,5). È stato scelto questo campione in maniera arbitraria per sfruttare al meglio il tempo del ricovero e per monitorare pazienti provenienti anche da altre regioni. L'analisi retrospettiva dei reperti emersi all'ecografia ha mostrato lesioni epatiche da teleangectasia emorragica ereditaria (HHT) in 27 (53%) dei 51 pazienti. Diciannove di questi (70%), con età compresa tra 40 e 86 anni (media di 63), avevano solo malformazioni vascolari di varia entità, senza ipertensione portale, gli altri 8 (30%) (con età compresa tra 39 e 81 anni, età med...

Macro- and microcirculation patterns of intrahepatic blood flow changes in patients with hereditary hemorrhagic telangiectasia

“…Two patients (12.5%) presented high-flow angiomas, similar to the percentage described by other authors (12%[ 17 ]). Focal nodular hyperplasia, described as a lesion with an enhanced prevalence in patients with HHT (2.9%) compared to general population (0.3%)[ 24 ] could be detected only in one case in our examination setting, however with the meaning of higher percentage (6.25%). There was no evidence for malignant lesions.…”

“…In our work we analyzed for the first time HVaMs in a group of patients ( n = 18) applying CEUS and adding quantitative perfusion analysis. HVaMs could be identified in all patients (100%), thus in higher percentage than in literature (78%)[ 4 ] and considerably higher compared to studies dealing with only baseline US (53%[ 24 ]). Coexisting disorders were rare, hepatic cysts and steatosis hepatis being the most frequent ones ( n = 4).…”

Liver cirrhosis in a patient with hepatic hereditary hemorrhagic telangiectasia and Budd–Chiari syndrome: a case report

“…Liver transplantation (LT) may be considered to be the only cure for HHT [13][14][15] and hepatic arterioportal fistula [16], although the role and curative action of LT in patients with HHT is controversial [17].…”

Congestive cirrhosis in Osler-Weber-Rendu syndrome: A rare case report

“…Although liver involvement is commonly present, symptomatic associated complications are rare. Because the liver has a dual blood supply and a dual venous drainage system, different types of vascular shunts can develop [5] . Clinical manifestations of liver involvement in HHT depend mostly on the predominant type and size of vascular shunt, and have been categorized into 3 distinct clinical patterns: (1) high-output cardiac failure, (2) portal hypertension, and (3) biliary disease.…”