Among all genetic diseases, doctors separately distinguish hemochromatosis . Although gene defects are inherited from the parents and are already present in the fetus, the first symptoms of the disease can occur in adulthood, sometimes after 30-40 years. With this pathology, the metabolism suffers significantly, there is an excessive accumulation of iron in the internal organs. The liver and heart are especially affected, structural and functional abnormalities are formed in them. Among the leading complications of hemochromatosis , liver pathologies are distinguished. The highest rates of serious lesions such as liver cancer and cirrhosis, although milder changes are possible.
Iron metabolism problems in liver pathologies
The liver is a continuously working organ, it is responsible for many types of metabolism, including iron metabolism. Everyone knows that iron deficiency provokes serious body problems associated with anemia and chronic tissue hypoxia. But an excess of iron in the body is no less dangerous. There are two types of problems. This is hemochromatosis – a hereditary disease in which disorders of iron metabolism are primary. In addition, options and iron overload associated with liver pathologies, serious endocrine metabolic disorders, some forms of anemia and drug overdose are possible.
Hemochromatosis differs from secondary iron overload in developmental mechanisms. It causes increased absorption of iron and its deposition in the organs due to metabolic disorders provoked by the activity of defective genes. Secondary iron overload can result from too many blood transfusions in some types of anemia. Secondary overload can be provoked by liver pathology with the development of hepatitis C, alcoholism, or taking an excess of iron-containing drugs.
Hemochromatosis : course and complications of the disease
Patients with hemochromatosis should be aware of the risk of severe complications that may occur if the disease is not detected and treated in time. In the first place are liver pathology and heart damage. The incidence of such serious problems as cirrhosis of the liver and cancer is especially high . However, there is no convincing evidence that a decrease in iron stores during bloodletting reduces the incidence of neoplasia in patients with liver cirrhosis, which is directly related to hemochromatosis .
Clinical symptoms of hemochromatosis appear after significant accumulation of iron in the body – usually between the ages of 35 and 40. In men, the first signs of the disease appear earlier than in women, which is associated with iron loss during menstruation. Many patients with hemochromatosis have no symptoms at all and are diagnosed with the disease after blood tests indicate an increased iron content in their organs.
Signs of hemochromatosis , damage to the heart, joints, glands
Early signs of the disease may include weakness constant fatigue, pain in the joints, changes in skin pigmentation, which becomes bronze or gray. Possible hair loss, memory problems, dizziness, decreased libido, and erectile dysfunction. In addition, experts identify several special conditions associated with hemochromatosis :
It develops in 25-30% of patients and initially affects one joint. As metabolic disorders progress, polyarthritis occurs with the involvement of many hip, knee and spinal joints.
This is a decrease in the production of sex hormones as a result of iron deposition in the pituitary gland or testicles. As a result, impotence in men and amenorrhea in women are formed.
- Heart damage ( cardiomyopathy )
Iron deposition in the heart can lead to arrhythmias or degeneration of the muscle itself. As a result, the heart changes structurally and functionally, leading to secondary cardiomyopathy .
Metabolic changes in hemochromatosis
Iron deposition in the liver disrupts metabolism, leading to an increase in the level of liver enzymes. The liver itself can be enlarged, which causes occasional pain in the upper right abdomen. In addition, impaired metabolism and iron deposition in the tissues of the pancreas threaten the development of diabetes or pancreatic cancer. Most of the external signs of hemochromatosis are the result of iron deposition in organs. The exceptions are the bronze color of the patient’s skin, which is due to increased deposition of melanin, and arthritis, which occurs as a result of the accumulation of calcium pyrophosphate crystals in the joints (the development of pseudogout ).
Risk of liver cirrhosis
Often, the functional pathology of the liver, which initially occurs against the background of hemochromatosis , leads to the development of more serious and irreversible organ damage. Liver cirrhosis is an irreversible change in tissues, their replacement with inactive fibrous tissue, which leads to loss of function. Liver cirrhosis is also a risk factor for developing carcinoma. It develops in 30% of patients with liver cirrhosis, which is caused by hemochromatosis . The incidence of hepatocellular carcinoma increases with age, reaching almost 50% in patients over 60 years of age.
Liver transplantation is the only definitive treatment option for people who have developed advanced cirrhosis in the setting of hemochromatosis . But the survival rate after surgery is low compared to patients suffering from cirrhosis caused by other diseases.
How is the diagnosis made?
The diagnosis of hemochromatosis is made after a thorough examination of the patient’s complaints, physical examination and a series of blood tests to rule out all other pathologies. Patients who have symptoms suggestive of hemochromatosis , such as:
- enlargement of the liver,
- serious heart damage or arrhythmias,
- liver dysfunction (especially with an increase in its size),
- the presence of a bronze color of the skin,
- or an abnormal decrease in the concentration of sex hormones,
- should be monitored for serum iron, ferritin, and other indicators to rule out hemochromatosis .