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 (January-December 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 40-86 years, mean 63) had vascular malformations of various dimensions but no portal hypertension; the other eight (30%) (age range 39-81 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.
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 (January–December 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 40–86 years, mean 63) had vascular malformations of various dimensions but no portal hypertension; the other eight (30%) (age range 39–81 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.
SommarioLa 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 media di 60 anni) avevano anche ipertensione portale.L’analisi retrospettiva da noi effettuata evidenzia come vi possa essere un numero significativo di pazienti con lesioni epatiche misconosciute, come queste possano presentarsi in maniera abbastanza imprevedibile, anche in pazienti con HHT diagnosticata anni prima e già sintomatici, come vi sia, frequentemente, una progressione delle lesioni epatiche e sia quindi opportuno un follow-up ecografico dei pazienti con HHT.Il limite del lavoro è legato alla relativa esiguità del numero di pazienti e al fatto che tutti erano sintomatici, ulteriori studi, in particolare su pazienti asintomatici, sono necessari per stabilire l’indicazione all’ecografia epatica e la frequenza dei controlli.
Keywords: Hereditary hemorrhagic telangiectasia; Liver; Rendu-Osler-Weber syndrome; Ultrasonography.