Hemochromatosis is a hereditary disease characterized by a violation of iron metabolism, as a result of which there is an excessive accumulation of this element in the tissues of the body (more than 20 g at a rate of 3-4 g). The name of the nosological form reflects the symptom most characteristic of this disease - intense staining of the skin and internal organs, according to Pannochka, an Internet publication for girls and women from 14 to 35 years old.. net The symptom complex typical for hemochromatosis was first described in the second half of the 19th century.

According to statistics, the probability of hemochromatosis in the population is 0.33%.

Synonyms: pigmented cirrhosis, bronze diabetes.

Excessive accumulation of iron in liver tissue.

Causes and risk factors The cause of hereditary hemochromatosis is a genetically determined predisposition associated with a mutation of genes responsible for the main stages of the exchange of iron pigments in the body (C282Y and H63D).

Secondary hemochromatosis is formed against the background of acquired failure of the enzyme systems involved in the exchange of iron in the body. The main pathologies leading to the development of secondary hemochromatosis:.

chronic viral hepatitis C and B;

non-alcoholic steatohepatitis;

liver tumors;

leukemia;

blockage of the pancreatic ducts;

cirrhosis of the liver;

thalassemia.

The accumulation of iron in tissues and organs can cause the development of life-threatening conditions - hepatic or diabetic coma, hepatic and heart failure, bleeding from dilated superficial veins.

Forms of the disease The main forms of hemochromatosis are primary and secondary, and the primary is not a monogenic disease. Depending on the type of mutation, such variants of primary (hereditary) hemochromatosis are distinguished:.

autosomal recessive;

juvenile;

autosomal dominant;

associated with a mutation of the second type of transferrin receptor.

Stages of the disease Hemochromatosis has the following stages:.

Without overloading the body with iron.

II. With an overload of the body with iron without clinical symptoms.

III. With pronounced clinical manifestations of pathology.

Symptoms The early stages of the pathological process are characterized by the presence of such general clinical symptoms of intoxication:.

increased fatigue, progressive weakness;

decreased appetite;

weight loss;

unmotivated weakening of sexual function.

The symptom complex typical for hemochromatosis was first described in the second half of the 19th century..

Excessive accumulation of iron in tissues and organs leads to pain in the joints and right hypochondrium, skin atrophy, testicular atrophy in men.

Joint pain in hemochromatosis is caused by an increased content of iron in organs and tissues The classic triad of symptoms of hemochromatosis:.

bronze pigmentation of the skin and mucous membranes;

diabetes;

cirrhosis of the liver;

Features of the course of the disease in young people In young people from 15 to 30 years old, the so-called juvenile form of hemochromatosis is formed, which is characterized by a pronounced overload of the body with iron with impaired functional activity of the liver and heart.

neboleem. net.