Hereditary amyloidosis: causes, symptoms and treatment
Hereditary amyloidosis, also known as genetic amyloidosis, is a rare genetic disease that is associated with the accumulation of amyloid proteins in tissues and organs. Amyloid proteins are formed as a result of improper processing of protein molecules in the body and can accumulate in various tissues, causing organ damage and dysfunction.
The causes of hereditary amyloidosis are associated with the presence of mutations in genes that encode proteins involved in the processing of protein molecules. These mutations can lead to disruption of protein processing and the formation of amyloid proteins.
Symptoms of hereditary amyloidosis can vary depending on the type of disease. Some of the most common symptoms include heart problems, kidney failure, vision problems, and nerve function problems. Patients with hereditary amyloidosis may also experience general weakness, weight loss, and digestive system problems.
Treatment of hereditary amyloidosis may include the use of medications aimed at reducing the level of amyloid proteins in the blood, as well as maintaining the function of the affected organs. In some cases, organ transplantation may be required.
Prevention of hereditary amyloidosis may include genetic testing to determine the presence of a genetic mutation associated with the disease in family members of those already suffering from hereditary amyloidosis. This can help in early detection of the disease and initiation of treatment in the early stages.
In conclusion, hereditary amyloidosis is a rare but serious disease that can lead to dysfunction of organs and tissues. Early detection and treatment can help prevent progression of the disease and preserve the patient's quality of life.
Genetic amyloidosis is a chronic progressive hereditary systemic disease caused by the overproduction of certain proteins that have the characteristic of amorphous interweaving of fibers. The disease is characterized by resistance to drug therapy.
According to statistics, almost half of patients with hereditary amyloidosis are men. The incidence most often affects the generation after 60 years of age. People with a normosthenic build are predominantly susceptible. An excess of protein substances, indicating the development of this disease, contributes to a decrease in the functioning of all internal organs and negatively affects the nervous system. Hereditary amyloidosis mainly affects the heart muscle, liver, muscular system, gastrointestinal tract, skin, and organs of the endocrine system.
Hereditary amyloidosis is promoted by violations of the genetic code caused by the influence of external and internal factors. The following are the main causes of the development of the disease:
genetic predisposition; hereditary diseases of hemolytic systems; bad inheritance from close relatives; radiation exposure; hypothermia; radiation exposure due to the use of chemotherapy for cancer; consumption of alcoholic beverages; infectious diseases; severe poisoning with toxic chemical compounds, pesticides, heavy metals; age category over 65 years; long-term exposure to ultraviolet radiation, which provokes the appearance of redness of the skin. In some cases, aspartic or lysosomal deficiency is a hereditary disease. There are several forms of this disease: 1) its carriage; 2) hereditary systemic amyloidosis; 3) tyrosine cystic dystrophy; 4) multifamily form. It is believed that the hereditary form of the disease differs in men, but it can also occur in women. According to statistical observations, the disease occurs in both sexes equally often, i.e., regardless of a person’s gender. Almost 88% of patients experience the formation of a triangular blue spot in the skin