Natural History and Outcome of Hepatic Vascular Malformations in a Large Cohort of Patients with Hereditary Hemorrhagic Teleangiectasia

Overview

Journal Dig Dis Sci

Specialty Gastroenterology

Date 2011 Feb 4

PMID 21290179

Citations 48

Authors

Elisabetta Buscarini

Gioacchino Leandro

Dario Conte

Cesare Danesino

Erica Daina

Guido Manfredi

Guido Lupinacci

Gianfranco Brambilla

Fernanda Menozzi

Federico De Grazia

Pietro Gazzaniga

Giuseppe Inama

Roberto Bonardi

Pasquale Blotta

Pierangelo Forner

Carla Olivieri

Annalisa Perna

Maurizio Grosso

Giacomo Pongiglione

Edoardo Boccardi

Fabio Pagella

Giorgio Rossi

Alessandro Zambelli

Affiliations

Soon will be listed here.

Abstract

Background: Hereditary hemorrhagic telangiectasia is a genetic disease characterized by teleangiectasias involving virtually every organ. There are limited data in the literature regarding the natural history of liver vascular malformations in hemorrhagic telangiectasia and their associated morbidity and mortality.

Aim: This prospective cohort study sought to assess the outcome of liver involvement in hereditary hemorrhagic telangiectasia patients.

Methods: We analyzed 16 years of surveillance data from a tertiary hereditary hemorrhagic telangiectasia referral center in Italy. We considered for inclusion in this study 502 consecutive Italian patients at risk of hereditary hemorrhagic telangiectasia who presented at the hereditary hemorrhagic telangiectasia referral center and underwent a multidisciplinary screening protocol for the diagnosis of hereditary hemorrhagic telangiectasia. Of the 502 individuals assessed in the center, 154 had hepatic vascular malformations and were the subject of the study; 198 patients with hereditary hemorrhagic telangiectasia and without hepatic vascular malformations were the controls. Additionally, we report the response to treatment of patients with complicated hepatic vascular malformations.

Results: The 154 patients were included and followed for a median period of 44 months (range 12-181); of these, eight (5.2%) died from VM-related complications and 39 (25.3%) experienced complications. The average incidence rates of death and complications were 1.1 and 3.6 per 100 person-years, respectively. The median overall survival and event-free survival after diagnosis were 175 and 90 months, respectively. The rate of complete response to therapy was 63%.

Conclusions: This study shows that substantial morbidity and mortality are associated with liver vascular malformations in hereditary hemorrhagic telangiectasia patients.

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