Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia

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 BoccardiFabio Pagella, Giorgio Rossi, Alessandro Zambelli

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)2166-2178
Number of pages13
JournalDigestive Diseases and Sciences
Volume56
Issue number7
DOIs
Publication statusPublished - Jul 2011

Keywords

  • Gastrointestinal bleeding
  • Heart failure
  • Hereditary hemorrhagic telangiectasia
  • Liver transplantation
  • Liver vascular malformations
  • Portal hypertension

ASJC Scopus subject areas

  • Gastroenterology
  • Physiology

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    Buscarini, E., Leandro, G., Conte, D., Danesino, C., Daina, E., Manfredi, G., Lupinacci, G., Brambilla, G., Menozzi, F., De Grazia, F., Gazzaniga, P., Inama, G., Bonardi, R., Blotta, P., Forner, P., Olivieri, C., Perna, A., Grosso, M., Pongiglione, G., ... Zambelli, A. (2011). Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia. Digestive Diseases and Sciences, 56(7), 2166-2178. https://doi.org/10.1007/s10620-011-1585-2