Hemochromatism ( pygmental cirrhosis, broth diabetes ) is a hereditary , genetically determined disease , manifested by a violation of iron metabolism with its accumulation in tissues and organs . Iron is absorbed from food and excessively accumulates in organs and tissues : the liver , pancreas , myocardium , spleen , skin , endocrine glands and other places. Excessive accumulation of iron in the body can trigger the development of a number of diseases: cirrhosis of the liver , heart failure , diabetes , arthritis .
Hemochromatosis | |
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Biopsy: a histological picture of hemosiderosis . | |
ICD-10 | E 83.1 |
ICD-9 | 790.6 |
MedlinePlus | |
Mesh | D019190 |
Content
Prevalence
According to the Institute of Iron Disorders ( Greenville , South Carolina ) , there are about 1 million people in the United States who are predisposed to hemochromatosis and about 150,000 patients who have been diagnosed with the disease. Thus, the probability of developing hemochromatosis is 0.33%. About 10% of the population are heterozygous carriers of recessive hemochromatosis genes. Irish people are most susceptible to this disease, which is why hemochromatosis is sometimes called “Celtic disease” [1] . At the end of 2015, it was found that hemochromatosis genes were brought to Ireland from the Black Sea coast [2] . Thanks to a study conducted by experts from the Institute of Cytology and Genetics of the National Academy of Sciences of Belarus, the prevalence of the HFE gene mutation in the native population of the republic became known. It was established that the total frequency of carriers of risk genotypes (homozygotes and heterozygotes for allele C282) is 4.5% [3] .
Classification
There are primary (classical, genetic, congenital, bronze diabetes, liver cirrhosis, Troisier-Ano-Chauffard syndrome) and secondary hemochromatosis associated with repeated crises of hemolytic and megaloblastic anemia , multiple blood transfusions , and incorrect treatment with iron preparations .
Etiopathogenesis
Genetic hemosiderosis develops as a result of: 1) Mutations of the gene linked to the A-locus of the HFE complex on the short arm of the 6th chromosome - C282Y (substitution of cysteine for tyrosine) 2) Mutation of the gene on the short arm of the 6th chromosome - H63D (replacement histidine to aspartate)
A healthy person contains 3-4 g of iron, with hemochromatosis — 20–60 g. Iron is one of the most important trace elements and is found in many foods, mainly red meat and other types of meat, to a lesser extent in the liver, also Fish, especially in red varieties and in bread and cereals specially enriched with iron, should be immediately noted that iron is much less easily absorbed from plant products and is contained there to a much lesser extent. Iron is part of the heme molecule (protoporphyrin-IX, which attached iron) , which in the composition of hemoglobin of red blood cells (red blood cells) provides oxygen transport from the lungs throughout the body and all oxidative molecules that provide constant energy metabolism of each living cell (cytochrome, etc.) .
In hemochromatosis, the human body absorbs too much iron from food, and begins to accumulate in the heart , liver and pancreas .
Diagnostics
It is not difficult - a thorough collection of family history (the disease, as a rule, is hereditary) in combination with laboratory diagnostics. Symptoms of hemochromatosis can vary widely: 90% of the body’s iron is absorbed by the liver; joint pain, arthritis, increased skin pigmentation can also be a consequence of hemochromatosis.
It is necessary to suspect hemochromatosis, when similar symptoms are detected in blood relatives. The most common cause of iron accumulation is a widespread genetic disorder - idiopathic hemochromatosis. Secondary iron accumulation problems can occur after multiple blood transfusions for various anemias.
The most practical screening test is the determination of serum iron, transferrin saturation and ferritin. Transferrin saturation of more than 50% in men and 45% in women suggests increased iron stores. A significantly elevated serum ferritin level means an excess of iron in the body as a whole. Genetic screening is currently used to assess which patients are at risk for marked liver fibrosis. The final diagnosis can be made by liver biopsy.
Clinical picture
Clinical symptoms:
- weakness and fatigue;
- pressure reduction ;
- pronounced weight loss;
- hyperpigmentation of the skin (slate gray with a brown tint), mucous membranes and retina;
- heart failure ;
- diabetes ;
- swelling and soreness of the joints.
Treatment
For the treatment of patients use:
- a diet restricted to foods containing iron (fish, meat, eggs, and others).
- iron binding preparations and promoting its removal (deferoxamine, B-desferal);
- alcohol rejection;
- effective treatment for bloodletting (phlebotomy or venesection). Bloodletting helps to remove iron from the body and lead to an improvement in overall condition, a decrease in pigmentation and size of the liver .
Forecast
Depends on the duration of the disease until diagnosis.
See also
- Hemosiderosis
Notes
- ↑ Genetic hemochromatosis, a Celtic disease: it is now time for population screening? PubMed. The appeal date is December 29, 2015.
- ↑ The Irish were called the descendants of the inhabitants of the Black Sea region . Lenta.ru . The appeal date is December 29, 2015.
- ↑ Iron overload syndrome (outlined by a doctor) (Russian) (March 9, 2017). The appeal date is June 29, 2018.