Hereditary Hemochromatosis (Literature Review and Own Experience)

Hereditary hemochromatosis is a group of genetically determined diseases characterized by excessive iron accumulation in organs and tissues, which, despite its significant prevalence, often remains latent. This article presents a brief review of the literature on hereditary hemochromatosis. Two clinical cases are described: in the first case, the disease was suspected after a coronavirus infection against the background of persistent hyperferritinemia; in the second, hereditary hemochromatosis had long "masqueraded" as non-alcoholic fatty liver disease with elevated transaminases and hepatomegaly. In both cases, the diagnosis was confirmed genetically (homozygous C282Y mutation). Treatment with phlebotomies made it possible to achieve remission and normalize iron metabolism parameters at the precirrhotic stage. In both cases, the disease was verified at the precirrhotic stage thanks to the determination of ferritin and serum iron levels, followed by molecular genetic testing, which revealed a homozygous C282Y mutation.

The prescribed pathogenetic therapy (regular phlebotomies) demonstrated efficacy as early as the induction phase, and the maintenance phlebotomy regimen allowed for a stable remission with normalization of iron metabolism parameters. These cases show that the key factors for a favorable prognosis in hereditary hemochromatosis are clinical alertness of physicians, timely laboratory diagnosis, and early initiation of elimination therapy before the development of irreversible organ damage. Routine inclusion of iron metabolism parameters in the diagnostic minimum for chronic hepatopathies and asthenic conditions in middle-aged men is clinically justified.

Timely diagnosis and effective treatment can prevent the development of severe complications and provide patients with a life expectancy comparable to that of the general population.

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