Multiple organ lesion in hemochromatosis

Abstract

Primary hemochromatosis refers to a congenital autosomal recessive disease associated with a mutation of the homeostatic iron regulator (HFE gene), whose pathogenetic mechanism is increased iron absorption in the intestines, which leads to excessive accumulation of iron in organs and tissues, mainly in the liver, pancreas, heart, pituitary gland, testicles. The consequence of the disease is the development of fibrosis and insufficiency of these organs. Genotyping of HFE gene mutations is the main method of hemochromatosis verification. The presence of the C282Y/C282Y genotype in combination with iron overload manifestations is a diagnostic criterion of the disease. The basic treatment of patients with hemochromatosis is phlebotomy, which can be combined with the prescription of iron chelators, symptomatic therapy.A clinical case of primary hemochromatosis in a 48-year-old man is of interest due to long-term persistence of certain symptomatic manifestations of hemochromatosis and verification of the disease only after decompensation of a cardiovascular pathology and magnetic resonance imaging (MRI) of the thoracic cavity. After obtaining the final diagnosis and treatment, the patient showed positive dynamics of clinical symptoms, laboratory and instrumental data.