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ALK‐1 mutations in liver transplanted patients with hereditary hemorrhagic telangiectasia
Author(s) -
Argyriou Loukas,
Pfitzmann Robert,
Wehner LarsErik,
Twelkemeyer Stefan,
Neuhaus Peter,
Nayernia Karim,
Engel Wolfgang
Publication year - 2005
Publication title -
liver transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.814
H-Index - 150
eISSN - 1527-6473
pISSN - 1527-6465
DOI - 10.1002/lt.20544
Subject(s) - medicine , telangiectasia , liver transplantation , acvrl1 , endoglin , gastrointestinal tract , pathology , transplantation , mutation , lung , gastroenterology , gene , biology , genetics , stem cell , cd34 , biochemistry
Abstract Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominantly inherited disorder characterized by cutaneous and mucosal telangiectasias, epistaxis and arteriovenous malformations in lung, liver, central nervous system, and gastrointestinal tract. Mutations in the genes for endoglin (ENG) and for activin A receptor type II‐like kinase 1 (ALK‐1) have been identified to be associated with HHT. Intrahepatic manifestation in HHT might lead to the requirement of liver transplantation. We report here on 6 liver transplanted patients and 2 who were scheduled for liver transplantation due to intrahepatic HHT, in whom both genes were sequenced. Mutation analysis revealed in all patients the presence of mutations in ALK‐1. In conclusion, these results are of possible prognostic value concerning the need of liver transplantation in HHT patients. (Liver Transpl 2005;11:1132–1135.)