Coexistence of hereditary hemorrhagic telangeictasia and fibropolycystic liver disease

Romil Saxena, Prodromos Hytiroglou, Evren O. Atillasoy, Yilmaz Cakaloglu, Sukru Emre, Swan N. Thung

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

This is a case report of a 43-year-old woman who received a transplant for end-stage liver disease due to hereditary hemorrhagic telangiectasia and fibropolycystic liver disease. This is an uncommon association of two autosomal-dominant conditions with defined genetic and molecular defects. The liver showed extensive vascular malformations of arteries and veins as well as telangiectasia and fibrosis. In addition, there were cystically dilated ducts containing inspissated bile and extensive yon Meyenburg complexes. This case raises interesting questions about the possible relationship of these genes and their gene products, both of which are related to cell-matrix interactions and are strongly associated with blood vessels, one of them being expressed on endothelial cells and the other being developmentally important in blood vessels.

Original languageEnglish (US)
Pages (from-to)368-372
Number of pages5
JournalAmerican Journal of Surgical Pathology
Volume22
Issue number3
DOIs
StatePublished - Mar 24 1998
Externally publishedYes

Keywords

  • Fibropolycystic disease
  • Hereditary hemorrhagic telangiectasia
  • Liver transplantation
  • Osler-Weber-Rendu disease

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

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