Hereditary hemochromatosis and alcohol: pathogenic synergism – a clinical case

Authors

  • Ricardo Vizinho Serviço de Medicina do Hospital Garcia de Orta
  • Carlota Girones Serviço de Medicina do Hospital Garcia de Orta
  • Rui Loureiro Serviço de Medicina do Hospital Garcia de Orta
  • João Namora Serviço de Medicina do Hospital Garcia de Orta

Keywords:

hereditary hemochromatosis, homozygotic H63D

Abstract

A 35-year-old man with marked ethanolic habits was referred to
Internal Medicine consultation because of right hyponchondrial
pain for several months and elevation of serum aminotranferases.
Skin hyperpigmentation was observed and high ferritin values
detected. Accordingly to the suspition of hemochromatosis
genotyping was performed and revealed an homozygotic H63D
mutation. Hepatic biopsy showed signs of hemochromatosis.
With therapeutic hemapheresis the patient had a favourable
outcome. Homozygotic H63D mutation is not usually associated
with hemochromatosis, but recently several cases have been
detected, sometimes associated with other contributing factors
to iron overload.

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Additional Files

Published

2009-09-30

How to Cite

1.
Vizinho R, Girones C, Loureiro R, Namora J. Hereditary hemochromatosis and alcohol: pathogenic synergism – a clinical case. RPMI [Internet]. 2009 Sep. 30 [cited 2024 Nov. 23];16(3):156-60. Available from: https://revista.spmi.pt/index.php/rpmi/article/view/1413

Issue

Vol. 16 No. 3 (2009): Julho/ Setembro

Section

Case Reports

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