Hemochromatosis - a violation of iron metabolism. Its typical symptoms - weakness, joint damage, and impotence. hemochromatosis treatment is carried out in two stages. The first step is to achieve therapeutic phlebotomy serum ferritin 50 g / L.
Causes
C282Y mutation gene leads to disruption of formation of the correct spatial structure zhelezoperenosyaschego protein that is produced in all tissues, except brain. C282Y mutation gene can disrupt capture iron protein HFE, and thus formed a false signal of presence of low content of iron in the body. Due to the reduction of intracellular iron begins to grow iron grip.
The genetic defect in hereditary hemochromatosis is available at the moment of birth. However, the symptoms of the disease rarely develops before the onset of adulthood. For the development of tissue damage and the emergence of expanded symptom takes many years, during which there was an increase iron absorption from the intestine and its accumulation in tissues.
manifestations of hemochromatosis
During hereditary hemochromatosis are three stages:
- without the presence of iron overload;
- iron overload without painful manifestations;
- manifestations of the disease.
Typical symptoms of hemochromatosis: general weakness, joint damage, impotence, skin staining, enlarged liver, hypoplasia of the sex glands, signs of congestive heart failure.
Diagnostics
The results of biochemical analysis of serum aminotransferase levels include increasing deviations of iron metabolism indicators, hyperglycemia, purpurinuria.
Liver biopsy revealed fibrosis and cirrhotic changes. Perhaps the development of hepatocellular carcinoma.
The most accessible screening test for the presence of iron overload is to determine transferrin saturation index (Tf%). If Tf%> 45%, then the next step is genetic testing for mutations C282Y / H63D gene.
treatment for hemochromatosis
When the diagnosis of hereditary hemochromatosis treatment measures include the elimination of iron overload and monitoring indicators of iron metabolism.
At the first stage the therapeutic phlebotomy 1-2 times a week with the regular level estimation hemoglobin and hematocrit blood and serum ferritin level study after removing every 1-2 g of iron (1g iron 4 is removed phlebotomy session). Bleeding continues until the level of serum ferritin 50 g / L. Usually this happens it is necessary to withdraw 8-25 units of blood. The breeding of smaller amounts of blood for patients in need, in whom the diagnosis is installed in screening examinations, before the development of clinical symptoms.
Further, to maintain a serum ferritin level of less than 50 g / l conducting phlebotomy required - 2-4 treatments per year.
