Hemochromatosis and diabetes mellitus: case report and literature review

Authors

  • Karina Biavatti Serviço de Endocrinologia, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brasil
  • Fernando Bourscheit Serviço de Endocrinologia, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brasil
  • Sandra Pinho Silveiro Serviço de Endocrinologia, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brasil
  • Ticiana Costa Rodrigues Hospital de Clínicas de Porto Alegre

Keywords:

hemocromatose, diabetes melito

Abstract

 Hemochromatosis is a disorder characterized by iron storage amended. The acquired form of the disease can be caused by iron overload, alcoholism, infection by  C virus hepatitis, non-alcoholic hepatitis and chronic liver disease. The hereditary form can be caused by different mutations, being the C282Y and H63D the most frequent, 83% of cases are homozigotous for C282Y and 4% are compound heterozygous (C282Y/H63D). Hemochromatosis is a condition that can affect several organs, including: heart, joints, liver, hypothalamus, pituitary, pancreas and gonads. The aim of this study was to report a case of hemochromatosis and review the literature, with special attention to the association of hemochromatosis and diabetes mellitus. Patient 53 years, male presented to the doctor with arthralgia metacarpophalangeal, ankles, knees, coxofemoral right, and cervical and lumbar, complaints of fatigue and weight loss. Between 3 brothers, one of them had a diagnosis of hereditary hemochromatosis, with PCR demonstrating homozygous for C282Y. Labs: GOT 128 U/L, ALT 231 U/L, alkaline phosphatase 258 U/L, abdominal ultrasound with hepatomegaly and spleen at the upper limit of normal. Liver biopsy demonstrated portal fibrosis extension with hemosiderosis intense. It also made the diagnosis of diabetes mellitus. The research confirmed the same mutation of the changing family: homozygous for C282Y

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Author Biography

Ticiana Costa Rodrigues, Hospital de Clínicas de Porto Alegre

Serviço de Endocrinologia do HCPA

Published

2008-12-31

How to Cite

1.
Biavatti K, Bourscheit F, Silveiro SP, Rodrigues TC. Hemochromatosis and diabetes mellitus: case report and literature review. Clin Biomed Res [Internet]. 2008Dec.31 [cited 2022May20];28(3). Available from: https://seer.ufrgs.br/index.php/hcpa/article/view/7197

Issue

Section

Case Report