Monday, March 12, 2012

Hemochromatosis

Hemochromatosis is an autosomal-recessive hereditary disorder of iron metabolism, which is characterized by abnormally high intestinal absorption of iron although the body is saturated with this metal. Therefore, there is a significant accumulation of iron in the body, especially in the liver, causing damage or death of hepatocytes, resulting in pathological fibrosis, and finally the development of liver cirrhosis. Hemochromatosis is the most common genetic disease in the Caucasian population of northern European countries, equally distributed between men and women. When women are significantly less likely hemochromatosis clinically diagnosed and probably reflected the loss of large amounts of iron during menstruation, childbirth and breastfeeding.

The diagnostic procedure

The diagnostic procedure consists of clinical evaluation, laboratory tests, genetic testing, radiographic examination, and histological evaluation. Thanks to genetic testing and routine testing serum iron, today many patients with hemochromatosis detected in the asymptomatic stage. On the other hand, it is important to know the typical clinical manifestations of hemochromatosis. Hyperpigmentation or bronze color of her skin caused by accumulation of melanin, while its black color is due to accumulation of iron in the basal layer epidermija. They are also often present arthralgia, and loss of libido and / or potency in men. Anyway, today is the prevalence of diabetic patients significantly decreased in diabetes is generally not in the absence of liver cirrhosis. Laboratory tests are elevated levels of serum iron and ferritin and elevated transferrin saturation. The introduction of commercial genetic tests, in patients with hemochromatosis gene analysis is completely replaced by a more aggressive and complex searches. Therefore, it is now considered in asymptomatic homozygotes (C282Y/C282Y) or compound heterozygotes (C282Y/H63D) identified by analysis of mutations in HFE-gene among siblings of index patients with hemochromatosis is no need for liver biopsy. In other words, in these patients was confirmed by genetic analysis of hemochromatosis diagnosis and immediate therapy is indicated venipuncture. During the performance of liver biopsy should be enough tissue for histological analysis and biochemical measurements of iron concentrations in liver tissue. In case of contraindications to liver biopsy is recommended to quantify the concentration of iron in the liver tissue make CT of the liver, liver MRI and / or testing of the magnetic susceptibility. Otherwise, in patients with hemochromatosis and developed cirrhosis of the liver is mandatory, due to very high risk of developing hepatocellular carcinoma, every 6 months to do an ultrasound of the liver and to determine the value of AFP.

Therapy

Venipuncture therapeutic gold standard therapy hemochromatosis. The standard dose of whole blood (500 ml) contains 200 to 250 mg of iron. Most patients tolerated well venepunkciju one week and to be implemented until the hematocrit falls below 37%. Younger patients may be submitted, and taking 2 to 3 doses of whole blood per week. With the aim of monitoring therapeutic response is recommended to check the level of transferrin saturation and serum ferritin every 2 to 3 months. When iron stores are exhausted, or when ferritin values ​​below 50 ng / mL with a transferrin saturation below 50%, indicated venipuncture maintenance of a single dose of whole blood every 2 to 3 months. In patients who can not tolerate venepunkciju and / or have a dominant heart disease events apply desferoksamin, while the method of choice for liver transplantation in patients in terminal stages of liver disease.Finally, it is important to avoid foods that contain higher amounts of iron (spinach, cabbage, alcohol, intestines and liver, blood, egg yolk).

Prevention

The introduction of commercially available genetic mutation results in the C282Y and H63D desirable view of family members of the patient. This examination of family members of patients receive reliable information about their status (normal, heterozygous, homozygous). Likely to be found among homozygous siblings is 25% of index patients. Family members who have the genetic analysis identified as homozygotes should be screened for the possible development of the disease phenotype. Initially all immediate family members of patients with hemochromatosis is recommended to do: CBC, Fe, TIBC, ferritin, transferrin saturation, bilirubin, AF, GGT, AST and ALT. Individuals who are heterozygous for C282Y are in danger of gradual iron overload. The children who were homozygous for C282Y or compound heterozygous preferably each year to measure levels of ferritin and implement therapeutic venipuncture when they raise.


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