The authors present the case of a 60-year-old patient admitted for diabetes mellitus. Primary (hereditary) hemochromatosis was diagnosed as the pathological background of diabetes as well as the associated symptoms (weight loss, arthrosis, erectile dysfunction, supraventricular arrhytmia, hepatic cirrhosis). To eliminate the accumulated excess iron, phlebotomy cycles were started. Family screening revealed two other affected patients who contrary to the index-patient were free of complaints. Phlebotomy was, however, started in one of these patients because of abnormal laboratory values consistent with iron-overload. For the prevention of the symptoms early diagnosis is important. Although some of the symptoms can disappear, the most severe changes (cirrhosis, diabetes) are irreversible. Latest knowledge about the pathophysiology including the genetic background and the practice of diagnosis and treatment of the disease are discussed as well.
|Number of pages||6|
|Publication status||Published - jún. 25 2006|
- Case report
- Genetic screening
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