The trace element iron is an important substance for maintaining the normal functioning of the whole organism. Nowadays there is a trend towards conditions that are characterized by iron deficiency in the body, especially in women, which is associated with regular blood loss.
But there is a disease that develops as a result of increased absorption of iron by body tissues, its accumulation in organs, which affects their functioning and leads to pathological conditions.
What is hemochromatosis? What is hemochromatosis?
Hemochromatosis – hereditary pathology, which is characterized by active absorption of the trace element iron in the body and its accumulation in organs. Hemochromatosis is also called bronze diabetes or pigmentary cirrhosis. Violation of iron metabolism in the body in this disease is genetically determined.
As a result of excessive accumulation of iron in the body, multiple organ failure develops. Hemochromatosis is characterized by the following symptom complex: cirrhosis of the liver, diabetes mellitus and skin pigmentation. The incidence of the disease is 3 cases per 1000 population. It was found that men are more susceptible to the disease, more often the disease manifests itself after 40 years.
In addition to primary (hereditary) hemochromatosis, there is also a secondary one. The primary one is associated with a defect in enzyme systems, the violation of which leads to the deposition of the trace element iron in the internal organs. Secondary hemochromatosis develops against the background of acquired disorders of enzyme systems. There are several variants of secondary hemochromatosis: alimentary, post-transfusion, mixed, metabolic, neonatal.
Why does iron accumulate in the body? Causes of hemochromatosis
The main cause of hereditary hemochromatosis is a mutation in the HFE gene, which is located on the short arm of chromosome 6. Defects in this gene are manifested by a violation of the transferrin-mediated uptake of iron by the cells of the small intestine, namely, the duodenum. In this case, a false signal is formed about iron deficiency in the body. And in response to this signal, the synthesis of iron-binding proteins DCT-1 by enterocytes increases, which contributes to enhanced absorption of iron in the intestine with sufficient intake of iron from food. There is a process of excessive deposition of the iron-containing pigment hemosiderin in the internal organs, functionally active cells begin to die in them and are replaced by connective tissue. With hemosiderosis, up to 1 gram of iron accumulates in the body every year.
Secondary hemochromatosis develops against the background of increased intake of iron in the body, which occurs with uncontrolled intake of drugs with iron, with frequent blood transfusions, skin porphyria, thalassemia, alcoholic cirrhosis of the liver, chronic viral hepatitis and the presence of malignant tumors.What clinical manifestations may indicate hemochromatosis?
The disease develops gradually with the appearance of non-specific complaints of fatigue, weakness, decreased libido, and weight loss. There is dry skin, discomfort and pain in the right hypochondrium, pain in the joints. Further, a complete clinical picture is formed: liver cirrhosis, skin pigmentation and diabetes mellitus, as well as cardiomyopathy and hypogonadism.
The very first specific sign is a bronze coloration of the skin on the face, neck, hands, genitals and scars. The intensity of the color depends on the duration of the process. Characterized by deformation of the nail plates and hair loss. Joints first hurt, then their stiffness develops.
On examination, an enlarged liver and spleen are revealed. The pancreas is affected, resulting in the development of insulin-dependent diabetes mellitus. Pituitary lesions in hemochromatosis are manifested by a decrease in sexual function. Cardiomyopathy is manifested by a violation of the heart rhythm, the development of myocardial infarction, chronic heart failure.
In the last stages of hemochromatosis, ascites appears against the background of portal hypertension. Death is usually due to bleeding from dilated veins of the esophagus, diabetic coma, acute heart failure, liver failure, sepsis.
Diagnosis of hemochromatosis. How to detect the disease in time?
To the extent of the development of polyclinic symptoms, patients can turn to specialists of various narrow specialties. If hemochromatosis is suspected, the diagnosis is confirmed by detecting elevated levels of iron, ferritin, and transferrin in the blood serum, as well as increased excretion of iron in the urine (positive desferal test), and a decrease in the total iron-binding capacity of the serum.
Treatment and prevention of hemochromatosis. What is the prognosis for life with hemochromatosis?
The treatment for hemochromatosis is to limit iron-rich foods. In order to remove excess iron in the body, they resort to the method of bloodletting under the control of hemoglobin levels, and also use extracorporeal methods of hemocorrection – plasmapheresis, hemosorption, cytapheresis. Pathogenetic therapy is based on the administration of deferoxamine, which binds Fe
3+ ions. Symptomatic therapy is also carried out for cirrhosis, hypogonadism, diabetes mellitus and heart failure. With severe arthropathy, arthroplasty is resorted to.
If left untreated, with detected hemochromatosis, the patient's life expectancy does not exceed 5 years. With timely detection and treatment of the condition, this prolongs the life of the patient by several decades. In order to prevent secondary hemochromatosis, it is important to control the intake of iron-containing drugs, blood transfusions, stop drinking alcohol and eat rationally.
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