Rheumatoid arthritis is a systemic autoimmune inflammatory disease that symmetrically affects multiple joints and presents with a variety of nonspecific general symptoms and extra-articular manifestations. Although it is not a hereditary disease, the genetic factor plays an important role in the development of arthritis and knowing the genetic predisposition with a genetic test can be a first step to take preventive measures.
This systemic autoimmune disease can affect the entire body, but has a special predilection for the peripheral joints (hands, feet, wrists, shoulders, elbows, hips and knees). It produces pain due to swelling and stiffness, characteristic of rheumatoid arthritis. Like all autoimmune diseases, it affects more women than men.
The causes that trigger this disease are not fully known; however, some possible risk factors, genetic and environmental, have been identified. Specifically, it is estimated that 50-60% of the risk of developing rheumatoid arthritis is of genetic origin. Knowing the genetic predisposition with a DNA test can be key to influencing environmental factors and slowing down the onset of rheumatoid arthritis.
Different genes are involved in the onset of rheumatoid arthritis, so it is considered a polygenic disease. There are studies showing a 1.5 times greater probability of presenting the disease in people with first-degree relatives affected by rheumatoid arthritis. Single nucleotide polymorphisms (SNPs) increase the genetic susceptibility to develop it.
If rheumatoid arthritis is suspected, genetic testing can be done to check for the presence of certain SNPs in genes related to the development of the disease. If they are present, a rheumatology specialist may recommend guidelines to minimize the onset of symptoms.
However, there are also other risk factors that are not genetic. One of the environmental factors that has been found to contribute most to the onset of rheumatoid arthritis is smoking. But some infections, female hormones, stress, obesity and type of diet can also contribute.
Although there is no cure for this disease, there are various pharmacological treatments that can improve the symptoms and slow the progression of the disease. In addition, there are general measures that can be carried out to
to slow down the onset and to relieve pain, such as exercising during periods of low inflammation and resting during periods of high inflammation, avoiding being overweight so that the joints do not have an additional burden, not smoking and using assistive devices offered in orthopedic clinics.
Rheumatoid arthritis is a disease that continues to be studied in order to offer patients a better quality of life. With genetics playing such an important role, gaining a deeper understanding of the genetic information of these patients can be key to both the development of a cure and its prevention. Genetic testing of the affected population and their relatives could provide valuable information for present and future research.