Open AccessLiver damage in a patient with Gaucher’s disease type I and alpha-1 antitrypsin deficiency: a potential epigenetic effect?
Author(s) -
Maria Lúcia Alves Pedroso,
Didoné Filho Cn,
Radunz,
de Barros Ja
Publication year - 2019
Publication title -
journal of gastrointestinal and liver diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.641
H-Index - 48
eISSN - 1842-1121
pISSN - 1841-8724
DOI - 10.15403/jgld.2014.1121.281.gau
Subject(s) - medicine , alpha 1 antitrypsin deficiency , cirrhosis , disease , epigenetics , liver disease , alpha (finance) , liver damage , bioinformatics , gastroenterology , genetics , gene , surgery , biology , construct validity , patient satisfaction
Gaucher's disease and alpha-1 antitrypsin deficiency are genetic diseases that can cause different kinds of liver damage, but are rarely associated with cirrhosis. Here, we describe the case of a patient with both diseases who presented with cirrhosis, followed by liver failure and death. Although the interaction between these two diseases remains unclear, we suspect the involvement of an epigenetic factor in the evolution of the aggressive liver disease.