An unexpected cause of liver cirrhosis and cardiomyopathy in a young man

Introduction Juvenile hemochromatosis is a rare but severe form of hereditary hemochromatosis that typically presents early in life and can be fatal if left untreated. Case presentation We present the case of a 30-year-old man with a clear symptomatology of juvenile hemochromatosis, but in whom the...

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Bibliographic Details
Published in:Acta clinica belgica (English ed. Online) 2018-10, Vol.73 (5), p.1-5
Main Authors: Pauwels, Ruben, Vandecasteele, Els, Devos, Daniel, Pauwels, Walter, De Pauw, Michel
Format: Article
Language:English
Subjects:
Alcohol use
Liver cirrhosis
Liver diseases
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Summary:Introduction Juvenile hemochromatosis is a rare but severe form of hereditary hemochromatosis that typically presents early in life and can be fatal if left untreated. Case presentation We present the case of a 30-year-old man with a clear symptomatology of juvenile hemochromatosis, but in whom the diagnosis was initially mistaken for alcoholic liver disease because of known excessive use of alcohol, with the consequence that an adequate treatment was postponed. Discussion In this report, we discuss the diagnosis and treatment of juvenile hemochromatosis, focusing on the interaction between hemochromatosis and alcohol induced liver disease and how to differentiate both. We conclude that every young patient with suspected alcoholic liver disease and signs of iron overload should have a testing to rule out other iron overloading pathology, since early recognition and treatment with phlebotomy may prevent organ damage and improve life expectancy.
ISSN:1784-3286
2295-3337
DOI:10.1080/17843286.2017.1409474