Hemochromatosis

Hemochromatosis (pigment cirrhosis, bronze diabetes, Troisi -Ano- Chauffard syndrome siderofiliya et al.) - A common disease characterized by disturbances of iron metabolism, increased its content in blood serum and accumulation in the tissues and internal organs. It is relatively rare, especially in men.

Etiology, pathogenesis. Primary ( "idiopathy-cal") hemochromatosis referred to fermentopathy and is considered as a congenital disease with autosomal dominant way of inheritance, in which the small intestine of human absorbed significantly more iron than normal, and it is excessively deposited in the tissues, the liver, pancreas gland, heart muscle, skin, and so on. e. primarily as an insoluble gemosidorina. There is a secondary inflammatory reaction sclerotic tissue of affected organs. The smooth muscle is also excessively delayed lipofuscin, in the epidermis - melanin. Secondary hemochromatosis occurs when an excess of iron entering the body (long-term uncontrolled iron therapy, with frequent repeated blood transfusions and so on. D.).

Symptoms within. Characterized by skin hyperpigmentation (especially exposed parts of the body, armpits, hands, genitals and old skin scars) receiving the gray-brown or brownish color, enlarged and dense liver and diabetes. Frequent failure phenomenon of endocrine glands, especially sex. Hemosiderosis manifested electrocardiographic signs of myocardial dystrophy infarction, arrhythmias, heart failure.

Increased serum iron concentration (50-70 mkmop / L), transferrin iron saturation reached 90% (normally 30%). Giperferremiya detected even before they arise hyperpigmentation of the skin and liver enlargement. The study painted blue nitroprusside histological slides prepared from patient biopsies of the liver, can detect a large number of intracellular iron. It is noted increased allocation of iron excretion after deferoxamine injection. Biochemical changes characteristic of liver cirrhosis appear in a later period of the disease, compared with hyperpigmentation and enlarged liver. As a rule, detected hyperglycemia and glycosuria.

The flow is gradually progressing.

Prognosis without treatment unfavorable. Life expectancy of patients after diagnosis (in the absence of treatment) does not exceed 4-5 years. The cause of death of patients can be hepatic or diabetic coma, acute bleeding from varices of the esophagus and stomach, heart failure; in older patients with longer duration of disease in 15-20% of cases develop liver cancer.

Treatment. Assign systematic bloodletting (about once a week for 400-500 ml of blood), repeated courses of injections of deferoxamine (10 ml of a 10% solution of the / m or / in). Diabetes, liver and cardiac complications of hemochromatosis cropped appropriate symptomatic therapy.