Hemochromatosis
Description:
Hemochromatosis - the hereditary disease transmitted on autosomal recessively type, which is characterized by disturbance of intestinal absorption of iron with its accumulation in cells of parenchymatous bodies: liver, pancreas and heart. As the liver is the main body of deposition of iron in an organism, the damage of a liver which is shown mikronodulyarny cirrhosis is the general and precursory symptom of hereditary hemochromatosis. Congestive heart failure, for the second time the leader to a dilatatsionny cardiomyopathy with tendency to accumulation of iron in a heart muscle can develop. Endocrine symptoms of hereditary hemochromatosis are characterized by a hypogonadism, is frequent in a combination with partial dysfunction of a front hypophysis, primary testicular insufficiency, a diabetes mellitus. Arthropathies and a pathological xanthopathy are also characteristic.
Accumulation of iron in a pancreas, is followed by its cirrhosis and decrease ekzo-and endocrine functions. Damage of a pancreas at hemochromatosis is followed by a diabetes mellitus, and considering a dark xanthopathy, hemochromatosis is also called bronze diabetes.
At patients with idiopathic hemochromatosis absorption of iron in intestines at its normal contents in food is increased. The increased deposition of iron in cells of a liver and other internals conducts to a degeneration of cells and fibrosis in combination with very insignificant inflammatory reaction. Normal the general reserves of iron in an organism do not exceed 4-5 g, the daily need for iron makes 1 mg at men and the menstruating women have 1,5 mg. Excess absorption of iron at hemochromatosis can lead to increase in amount of the deposited iron up to 20-60 g. Concentration of iron in a liver (it is normal of 7-100 mkg on 100 mg of dry weight) at all patients with hemochromatosis exceeds 1000 mkg on 100 mg (i.e. 1% of dry mass of a liver). Originally iron is laid in liver cells in the form of easily mobilized the water-soluble, containing 23% of iron, protein of ferritin, later - in the form of the granules of protein of hemosiderin surrounded with a single-layer membrane containing 35% of iron. Hemosiderin will hardly be mobilized, consists of the polymerized molecules of ferritin and gives positive reaction with the Berlin azure (Perls's reaction).
Hemochromatosis symptoms:
Classical triad of the developed hemochromatosis stage: the xanthopathy, grayish with a bluish shade, mainly in extremities, the person, a neck and generative organs (melanoderma), scanty pilosis, a diabetes mellitus and a hepatomegalia (bronze diabetes, pigmental cirrhosis) is observed more than at 80% of patients. The liver at patients with hemochromatosis is evenly increased, dense, smooth and quite often painful. Increase in a spleen is observed at later stages of a disease. A final stage of a disease - makronodulyarny cirrhosis. The diabetes mellitus often is insulin-dependent, and at some patients insulin resistance can be noted. Also the latent diabetes revealed by a glucose tolerance test is possible. At 20% of patients pigmentation not only skin, but also mucous membranes is noted. At 7-19% of patients with hemochromatosis hepatocellular cancer of a liver develops. Pancreas cirrhosis is often observed, than development at hemochromatosis of an insulin-dependent diabetes mellitus speaks.
Hemochromatosis reasons:
The disease is caused, apparently, by genetic enzymatic defect which nature is not found out yet. It is transferred autosomalno-retsessivno and is associated with some antigens of histocompatibility among which HLA-A3 and HLA-B7 prevail. Frequency of a gene of idiopathic hemochromatosis in the general population makes 5,6% that corresponds to the frequency of a disease of 0,3%.
Men are ill by 10 times more often than women, usually at the age of 40-60 years. In the initial stage which is slowly progressing in cirrhosis for a row of years complaints to the expressed weakness, bystry fatigue, loss in body weight, decrease in sexual function at men prevail. Dryness and atrophic changes of skin, an atrophy of testicles are often noted pain in right hypochondrium, joints in connection with a chondrocalcinosis of large joints. Damage of a myocardium with heart failure and arrhythmia can be initial display of a disease.
Treatment of Hemochromatosis:
The most effective method of treatment of idiopathic hemochromatosis are systematic bloodlettings under control of health of the patient, a picture of red blood, indicators of exchange of iron and repeated punctures of a liver. Originally at each venipuncture delete 500 ml of blood. Bloodlettings repeat with week intervals before development of moderate anemia. Further intervals gradually increase up to 3 months, continuing treatment before total disappearance of excess deposition of iron in a liver. Thanks to it it is possible to lower a lethality of patients within 5 years from 67 to 11%.
At this type of cirrhosis purpose of antioxidants as and at hemochromatosis, formation of excessive quantity of free radicals of oxygen, hydrogen, products of peroxide oxidation of lipids which directly reduce resistance of hepatocytes and, as a result, functional activity of a liver is initiated is absolutely necessary, bringing and aggravating gepatoprivny insufficiency. Besides, products of a peroksidation of lipids activate star-shaped retikuloendoteliotsita and lipocytes (generally it concerns low-new dial) and as result the immune inflammation and a kollagenoobrazovaniye in a liver are intensified. Appoint Essentiale, ливолин, legalonum, симепар on 2 капс. 3 times in day of 3-4 months, and also (namatsit) the drugs containing vitamins E (alvitit, генсамин, форматон, triovit, tocopherol) and zinc. The last appoint in sredneterapevtichesky doses within 30 days.
