A Case Report of a Patient with Genetic Haemochromatosis

Slobodan Kažia1, Vladimir Vukeevia1, Miodrag Borzanovic2, Milutin Miria2, Dušan Djurdjevia1, Branka Dapeevia1

Abstract

We present a case of a 39-year old woman who was referred to us with symptoms of an advanced stage of heart failure, accompanied by latent diabetes mellitus and incipient liver cirrhosis. After the diagnostic tests which included laboratory investigation, endoscopy, heart catheterisation, biopsies of heart muscle and liver using the hepatic iron index, a diagnosis of genetic haemochromatosis was established. Although the prevalence of this disorder is relatively low, the possible existence of haemochromatosis must always be considered in the case of patients who are referred with signs of myocardiopathy or liver cirrhosis of unknown cause, because the specific therapy which consists of phlebotomies may be lifesaving.

Key words

Genetic haemochromatosis - liver cirrhosis - myocardio-pathy