Hemochromatosis (Pigmented Cirrhosis of the Liver, Bronze Diabetes, Troisier-Hano-Choffa-Ra Syndrome, Siderophilia, etc.)

Hemochromatosis: pigmented cirrhosis of the liver, bronze diabetes, Troisier-Hano-Choffa-Ra syndrome, siderophilia and other manifestations

Hemochromatosis is a rare hereditary disease that is characterized by impaired iron metabolism, increased iron content in the blood serum and accumulation in tissues and internal organs. This condition can lead to various complications, such as pigmented cirrhosis of the liver, bronze diabetes, Troisier-Hano-Choffa-Ra syndrome, siderophilia and other manifestations.

The etiology and pathogenesis of primary hemochromatosis are associated with disruption of iron metabolism mechanisms, which are usually regulated by the hormone hepcidin. In primary hemochromatosis, which has an autosomal recessive type of inheritance, much more iron is absorbed in the human small intestine than normal, and it is excessively deposited in tissues, mainly in the form of insoluble hemosidorin. Secondary hemochromatosis occurs when excess iron enters the body, for example, with long-term uncontrolled treatment with iron supplements or with repeated frequent blood transfusions.

One of the main manifestations of hemochromatosis is hyperpigmentation of the skin, which takes on a gray-brown or brownish color. In addition, patients with hemochromatosis may have an enlarged and dense liver and diabetes mellitus (usually insulin-dependent). Hypogonadism with loss of libido and atrophy of the gonads is not uncommon. Myocardial hemosiderosis can be manifested by cardiomegaly, cardiac rhythm and conduction disturbances, heart failure, and ECG changes (low voltage, flattening or inversion of the T wave).

To diagnose hemochromatosis, biochemical and histological studies are performed, as well as tests for the presence of the HFE gene, responsible for primary hemochromatosis. The study of histological preparations stained with blue nitroprusside, prepared from liver biopsies of the patient, allows us to detect a large amount of intracellular iron. There is an increased excretion of iron in the urine after deferoxamine injection. Biochemical changes characteristic of liver cirrhosis appear in a later period of the disease and can serve as additional confirmation of the diagnosis.

Treatment for hemochromatosis is aimed at reducing iron levels in the body and preventing complications. For this purpose, phlebotomy (blood sampling), chelation therapy (the use of drugs that bind and remove iron from the body), as well as a diet that excludes iron-rich foods are used.

In general, the prognosis for patients with hemochromatosis depends on the degree of iron metabolism disorder and the severity of complications. With timely detection and proper treatment, the prognosis is usually favorable. However, with prolonged accumulation of iron in the body, severe complications are possible, such as pigmented cirrhosis of the liver, heart failure, diabetes mellitus and other diseases. Therefore, it is important to undergo regular medical examinations and monitor your health.