Hemochromatosis
The content of the article:
- Causes and risk factors
- Forms of the disease
- Disease stages
- Symptoms
- Features of the course of the disease in young people
- Diagnostics
- Treatment
- Possible complications and consequences
- Forecast
- Prevention
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 most characteristic feature of this disease - an intense staining of the skin and internal organs.
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-containing pigments in the body (C282Y and H63D).
Secondary hemochromatosis is formed against the background of acquired incompetence 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;
- steatohepatitis of non-alcoholic genesis;
- liver tumors;
- leukemia;
- blockage of the pancreatic ducts;
- cirrhosis of the liver;
- thalassemia.
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.
Disease stages
Hemochromatosis has the following stages:
- Without overloading the body with iron.
- With an overload of the body with iron without clinical symptoms.
- 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.
Excessive accumulation of iron in tissues and organs leads to pain in the joints and the 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
Young people from 15 to 30 years old form the so-called juvenile form of hemochromatosis, which is characterized by a pronounced overload of the body with iron with impaired functional activity of the liver and heart.
Diagnostics
Diagnostic clinical criteria for hemochromatosis:
- diabetes;
- hypogonadism;
- cardiomyopathy;
- skin pigmentation.
The laboratory criterion is the transferrin saturation coefficient of 45% and higher.
MRI of the liver shows the accumulation of iron in its cells, characteristic of hemochromatosis
The most informative non-invasive diagnostic method is the magnetic resonance imaging of the liver, which makes it possible to note a decrease in the signal level due to excessive accumulation of iron in its cellular structures.
Treatment
The main pathogenetic method for treating hemochromatosis is bloodletting, as a result of which excess iron is eliminated from the body. Pharmacological methods of iron removal are also used, based on the intake of iron-binding drugs.
Bloodletting for hemochromatosis removes excess iron
Symptomatic treatment consists of measures aimed at eliminating the manifestations of diabetes mellitus, maintaining the functional activity of the liver and heart.
Possible complications and consequences
In addition to the pronounced toxic effect of excess iron concentration on the body, its accumulation in tissues and organs can cause the development of life-threatening conditions - hepatic or diabetic coma, liver and heart failure, bleeding from dilated superficial veins.
Forecast
Hemochromatosis is a serious disease, the prognosis of which depends on the degree of iron accumulation in the body and on the compensatory capabilities of the organs and systems involved in the pathological process. Timely started and regularly conducted pathogenetic therapy can increase life expectancy by several decades.
Prevention
Since primary hemochromatosis is hereditary, there are no measures to prevent it. Preventive measures for secondary hemochromatosis include:
- adherence to a diet that limits the use of foods rich in iron;
- taking iron-binding drugs.
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The information is generalized and provided for informational purposes only. At the first sign of illness, see your doctor. Self-medication is hazardous to health!
