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Liver Damage in a Patient with Gaucher’s Disease Type 1 and Alpha-1 Antitrypsin Deficiency: a Potential Epigenetic Effect?

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Maria Lúcia Alves Pedroso1, Celso Nilo Didoné Filho1, Vanessa Radunz1, João Adriano de Barros2

1) Department of Hepatology, Clinic Hospital, Federal University of Paraná
2) Department of Pneumology, Clinic Hospital, Federal University of Paraná, Paraná, Brazil

DOI: http://dx.doi.org/10.15403/jgld.2014.1121.281.gau

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.
Key words: Gaucher’s disease − alpha-1 antitrypsin deficiency − liver fibrosis − cirrhosis.
Abbreviations: AATD: alpha-1 antitrypsin deficiency; GCase: glucocerebrosidase enzyme; GD: Gaucher’s disease; GC: glicosilceramide.