The disease manifests itself in an individual whose total sum of all factors exceeds a certain mark. After all, a person suffers from the same atherosclerosis, the level of cholesterol in the blood of which exceeds a certain critical value.
It turns out that almost any person can get sick, because everyone has a certain share of predisposition, it’s just that everyone has it of varying degrees. This degree, unfortunately, is impossible to find out thoroughly.
Moreover, if the external factors of human habitation turned out to be negative, then he can get sick even with a low degree of probability at the genetic level. In most cases, doctors judge the degree of risk based on such signs as the age when the disease first made itself felt, the severity of the course, and the number of family members who also had it.
Genetic predisposition depends on how early the disease manifested itself, how severe it is, and how many relatives also suffered from this disease.
Unfortunately, the general picture of predisposition is often difficult and even impossible to draw.
It is believed that rheumatic autoimmune diseases are associated with the presence of specific antigens. However, among their owners, the risk of getting such a disease is about 5%.
If the disease is multifactorial, then practical research is needed to give a more accurate prognosis. To obtain an individual assessment of the degree of risk, sometimes complex mathematical calculations are required.
Since the predisposition to hereditary diseases is mainly determined by genes, then you need to remember about their functions. Genes are involved in protein synthesis. Mutations in genes also affect its structure, changing it. For each disease, these changes are already known.
For example, changes in the structure of collagen lead to Marfan’s syndrome of increased fragility of bones, hemoglobin – to hereditary anemia, and disturbances in the formation of melanin – to albinism.
At the same time, it is known that proteins are divided into building and functional, and diseases are inherited in accordance with these types.
The main signs of diseases associated with a lack of one chromosome or the presence of an extra one are developmental delays, as well as a decrease in the function of the reproductive organs.
All organs are under the control of human genes, so their mutation will lead to certain consequences.
Defects such as six-toed or fusion of fingers are also hereditary diseases. Severe malformations that a person cannot live with are also the result of poor heredity. The worst thing is when a person is born outwardly healthy, but after that changes appear in mental or physical development, because of which a person can become disabled or even die.
Hereditary diseases are divided into mono-symptomatic, such as congenital blindness or deafness, and those that, due to the mutation of one gene, cause many disorders in many organs. For example, Marfan disease simultaneously causes skeletal changes, heart damage, and eye disease.
Also, hereditary diseases can be very similar in appearance, but have different causes. These include hereditary deafness. It happens that the hereditary predisposition to the disease reaches 100% in the presence of the disease in both parents. While the child is still born healthy. The explanation lies in the various causes of the onset of the disease in his parents.
It is very important to identify people with a genetic predisposition, register them and start taking measures to prevent the development of the disease by taking appropriate medications. And also try to completely eliminate external factors that act as a catalyst for the development of the disease.
The degree of cure is most influenced by the possibility of influencing the causes of the development of the disease.
Surgical treatment is indicated for many congenital malformations in development. For example, hereditary disorders of metabolic processes in the body are eliminated with a special diet, and hormones are used for endocrine diseases, etc.
Having identified a predisposition to diseases of a hereditary type, it is very important to quickly prescribe the correct treatment, otherwise a person may become disabled or die prematurely.
Today we can only talk about the timely diagnosis and prevention of hereditary diseases, as well as their symptomatic treatment.