Diagnosis and treatment of hereditary hemochromatosis using two clinical cases as an example

Abstract The relevance of the problem of hereditary hemochromatosis is determined by the fact that the disease has a latent period, during which there is an excessive intake of iron into the body and its accumulation in the form of ferritin and hemosiderin in the cells of parenchymal organs. The clinical picture of the disease manifests itself when the amount of accumulated iron in the body exceeds the permissible norms, which contributes to the development of fibrosis of the tissue of target organs. Delayed pathogenetic treatment leads to irreversible changes in the affected organs, with the formation of their insufficiency. People of working age are susceptible to the disease. The purpose of this study is to highlight the issues of pathogenesis, diagnosis and treatment methods of hereditary hemochromatosis. Research materials. Two clinical cases are presented, on the example of which the sequence of diagnostic and therapeutic measures for primary hemochromatosis is demonstrated. Results and discussions. A broad approach to the examination of patients with polymorbid pathology is recommended, with a mandatory study of iron metabolism and the identification of early signs of hereditary hemochromatosis.