- Hemochormatosis: symptoms
- Hemochromatosis: causes
- Hemochormatosis: DNA test and blood test
- Hemochromatosis: treatment
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Hemochromatosis is a metabolic disease, the essence of which is the excessive accumulation of iron in the body. While the deficiency of this element rarely leads to death, its excess in haemochromatosis is often the cause of directly life-threatening diseases: cirrhosis, hepatocellular carcinoma and circulatory failure. What are the causes and symptoms of hemochromatosis? How is her treatment going?
Contents:
- Hemochormatosis: symptoms
- Hemochromatosis: causes
- Hemochormatosis: DNA test and blood test
- Hemochromatosis: treatment
Hemochromatosis is a metabolic disease in which excess iron builds up in the tissues in the form of hemosiderin (a protein complex that stores iron in cells).
In the case ofcongenital (primary) hemochromatosisthe basis of this pathological process is a malfunctioning system that excretes iron from the body. The system of controlling the absorption of this element from food works properly.
Insecondary hemochromatosiserythrocytes (red blood cells) and liver cells release too much iron, which then builds up in the body's tissues. Iron accumulates in many organs (lungs, kidneys, heart, pancreas, endocrine glands), but most often in the bone marrow and liver.
The risk of this disease is much greater in men than in women - it is contributed to by the menstrual cycle and lactation, during which there is blood loss and a reduction in the accumulation of iron ions in the organs.
Hemochormatosis: symptoms
Symptoms of primary haemochromatosis, although congenital, usually appear between the ages of 40 and 60. Patients with pathological processes involving a given organ in which iron accumulates complain of a feeling of chronic fatigue and joint pain. There is also liver damage manifested by enlargement of this organ. In the advanced stage of organ damage, the classic triad of symptoms appears:
- cirrhosis of the liver (which is associated with a significant risk of developing hepatocellular carcinoma)
- diabetes
- excessive skin pigmentation
In addition, dilated cardiomyopathy may appear,heart failure, hypogonadism and hypothyroidism.
The symptoms of secondary hemochromatosis are very similar to the primary and appear in the course of the above-mentioned the diseases that cause it.
Hemochromatosis: causes
The cause of the primary, i.e. congenital haemochromatosis (also known as brown or brown diabetes), is most often a genetic mutation. Depending on the type of hemochromatosis, the HFE gene (type 1), HJV and HAMP (type 2), TRF2 (type 3) or SLC40A1 (type 4, the so-called ferroportin disease).
Research shows that one in ten people carry a mutation in the hemochromatosis gene, but the symptoms only appear in people who inherited one copy of the mutated gene from both the father and the mother. The highest frequency of mutations in the HFE gene is observed in the Scandinavian population (1/200 people). Due to the prevalence of mutations, primary haemochromatosis is one of the most frequently diagnosed genetically determined diseases.
Secondary haemochromatosis is caused by diseases, both acquired and congenital, such as, for example, thalassemia (thyroid cell anemia), congenital spherocytosis, acquired sideroblastic anemia and liver diseases: chronic hepatitis C (hepatitis C ), fatty liver - nonalcoholic fatty liver disease, alcoholic liver disease.
Hemochormatosis: DNA test and blood test
The basic diagnostic tests include the determination of iron concentration and transferrin saturation in the serum. After confirming abnormalities in blood tests, genetic tests should be performed for the most common gene mutations associated with the development of hereditary haemochromatosis.
Histopathological examination of a liver specimen, the purpose of which is to confirm the presence of iron and to determine the advancement of fibrosis, is recommended in exceptional cases.
Hemochromatosis: treatment
Hemochromatosis is an incurable disease, and the therapy is aimed at alleviating its symptoms by emptying iron stores and maintaining the concentration of this element within the normal range.
The most common treatment for haemochromatosis is blood flow treatment (phlebotomy). Iron chelators are given in patients with secondary haemochromatosis. In some cases, administration of erythropoietin is also used. Diabetes mellitus, hypogonadism, liver cirrhosis, cardiomyopathy are irreversible lesions.
One of the elements of the therapy is a diet, which involves avoiding iron and vitamin C supplementation, and not consuming iron-rich foods, e.g. red meat,liver.