Can rheumatism be detected in the genetic test? | Genetic test – When is it useful?

Can rheumatism be detected in the genetic test?

Genetic diagnostics is also playing an increasingly important role in rheumatology, as increasing genetic characteristics are being researched as causative factors in certain rheumatic diseases. One of the best known genetic characteristics, which are frequently associated with rheumatic diseases, is the “HLA B-27 gene”. It is involved in the development of the diseases “Morbus Bechterew”, psoriasis, rheumatoid arthritis and numerous other diseases that are associated with rheumatological complaints.

However, for the vast majority of rheumatic clinical pictures, several genetic defects or mutations are required for a disease to develop. Environmental factors also play an important role. Smoking or an unhealthy diet can have a very large influence here.

Therefore, a genetic examination is often indicated when a rheumatoid disease is suspected, but its informative value is rather poor in a (still) healthy person. Many people who do not fall ill carry different risk genes and the probability of actually falling ill is difficult to determine. In such cases, genetic testing in advance is rarely effective.

If, however, the disease is a genetic disorder such as hemochromatosis, which often causes joint problems, a genetic test to confirm the disease is certainly useful.You can find everything else on this topic under: RheumatismHemochromatosis is the most common general disease in Germany, which is only caused by a single genetic defect. Approximately each 400th human being is affected by it. The affected “HFE gene” suffers a single mutation, which causes the intestine to absorb too much iron.

Due to the significantly increased iron levels in the blood and the limited possibilities for excretion, the iron inevitably stores in cells and organs. The skin, joints, pancreas or liver are particularly affected. The latter can become seriously ill at an early stage, resulting in cirrhosis of the liver in the long term and the need for a liver transplant.

Hereditary hemochromatosis is a hereditary disease that can be detected quite reliably by genetic testing. If the disease is diagnosed too late, irreversible damage to joints and organs may already have occurred. But just because one carries the diseased gene, the disease does not necessarily have to break out.

A general screening for gene carriers is still not the rule. Signs of hemochromatosis are joint problems and fatigue. If the blood test also reveals a problem in the iron balance, hemochromatosis should be considered and clarified. or symptoms of hemochromatosis