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

Ruben Pauwels (UGent) , Els Vandecasteele (UGent) , Daniel Devos (UGent) , Walter Pauwels and Michel De Pauw (UGent)
(2018) ACTA CLINICA BELGICA. 73(5). p.393-397
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Abstract
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.
Keywords
Juvenile hemochromatosis, iron overload, cardiomyopathy, liver cirrhosis, hypogonadism, alcohol, phlebotomy, JUVENILE HEMOCHROMATOSIS, IRON-OVERLOAD, HJV GENE, DISEASE, DIAGNOSIS, ALCOHOL, MANAGEMENT, MUTATION, PATIENT, STORES

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MLA
Pauwels, Ruben, Els Vandecasteele, Daniel Devos, et al. “An Unexpected Cause of Liver Cirrhosis and Cardiomyopathy in a Young Man.” ACTA CLINICA BELGICA 73.5 (2018): 393–397. Print.
APA
Pauwels, Ruben, Vandecasteele, E., Devos, D., Pauwels, W., & De Pauw, M. (2018). An unexpected cause of liver cirrhosis and cardiomyopathy in a young man. ACTA CLINICA BELGICA, 73(5), 393–397.
Chicago author-date
Pauwels, Ruben, Els Vandecasteele, Daniel Devos, Walter Pauwels, and Michel De Pauw. 2018. “An Unexpected Cause of Liver Cirrhosis and Cardiomyopathy in a Young Man.” Acta Clinica Belgica 73 (5): 393–397.
Chicago author-date (all authors)
Pauwels, Ruben, Els Vandecasteele, Daniel Devos, Walter Pauwels, and Michel De Pauw. 2018. “An Unexpected Cause of Liver Cirrhosis and Cardiomyopathy in a Young Man.” Acta Clinica Belgica 73 (5): 393–397.
Vancouver
1.
Pauwels R, Vandecasteele E, Devos D, Pauwels W, De Pauw M. An unexpected cause of liver cirrhosis and cardiomyopathy in a young man. ACTA CLINICA BELGICA. 2018;73(5):393–7.
IEEE
[1]
R. Pauwels, E. Vandecasteele, D. Devos, W. Pauwels, and M. De Pauw, “An unexpected cause of liver cirrhosis and cardiomyopathy in a young man,” ACTA CLINICA BELGICA, vol. 73, no. 5, pp. 393–397, 2018.
@article{8551901,
  abstract     = {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.},
  author       = {Pauwels, Ruben and Vandecasteele, Els and Devos, Daniel and Pauwels, Walter and De Pauw, Michel},
  issn         = {1784-3286},
  journal      = {ACTA CLINICA BELGICA},
  keywords     = {Juvenile hemochromatosis,iron overload,cardiomyopathy,liver cirrhosis,hypogonadism,alcohol,phlebotomy,JUVENILE HEMOCHROMATOSIS,IRON-OVERLOAD,HJV GENE,DISEASE,DIAGNOSIS,ALCOHOL,MANAGEMENT,MUTATION,PATIENT,STORES},
  language     = {eng},
  number       = {5},
  pages        = {393--397},
  title        = {An unexpected cause of liver cirrhosis and cardiomyopathy in a young man},
  url          = {http://dx.doi.org/10.1080/17843286.2017.1409474},
  volume       = {73},
  year         = {2018},
}

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