Viera Kupčová
Hereditary hemochromatosis (HH) is an autosomal recessive hereditary disease characterized by accumulation of iron (Fe) in organs and tissues leading to their damage. In diagnosis of HH mostly the findings of higher levels of Fe in the serum, higher saturation of transferrin, higher level of feritin in the serum and evidence of iron accumulation in liver using magnetic resonance or histological examination are used. Genetical examination is the golden standard in diagnosis of HH. Despite classical clinical picture of HH the number of asymptomatic patients without clinical manifestation is growing. The first symptoms of the disease can be revealed extrahepatally afflicting other organs and systems (pancreas, heart, joints, skin, endocrine system). Two case reports of patients with HH and its manifestation in more organs are presented in this work. After systemic therapy improvement of hepatic disease and finding in other organs was achieved. The mentioned case reports show individual differences of clinical manifestation and symptomatology in HH and the need of early diagnosis of HH. This is the way how to prevent severe multi-organ damage. At the same time the case reports prove that even in cases of the severe changes in more organs the exact and systematic therapy can be beneficial in HH.