Dupuytren's disease, also known as Dupuytren's contracture, is a condition in which the tissues under the skin of the palm and fingers thicken, causing the fingers to curl inward. This can limit the function of the hand. Treatment options include injections and surgery to release dense tissue. The assessment of the Polygenic Risk Score for Dupuytren's disease is based on the examination of 42 gene polymorphisms.
Genetic testing for Dupuytren's disease is included along with 11 other diseases in the Genetic Screening for Musculoskeletal Diseases, Polygenic Risk Score.
Causes and non-genetic risk factors
The causes that give rise to the disease are unknown. Studies have shown that it has a significant genetic component and that, in addition, there are risk factors that favor its appearance, such as the following:
- Age: It occurs more frequently after the age of 50
- Sex: It is more common in men than in women, and the symptoms are usually more evident in men
- Ethnic origin: It is more common in people from Northern Europe
- Habitual use of vibratory machinery
- Some diseases such as diabetes, liver disease or epilepsy
- Habitual consumption of tobacco and alcohol
Symptoms
The first physical manifestation of the disease is the presence of a nodule in the palm that may be tender but is painless. Over time, a cord may form that extends to the fingers and closes the hand. In the advanced stages of the disease, affected persons cannot fully open their hands and have trouble grasping objects.
Prevention
So far, there are no known measures to prevent Dupuytren`s disease. However, once diagnosed, there are treatments that help manage the pathology, such as surgery (in severe cases), radiation therapy (especially in early stages), or steroid or collagenase injections. Any treatment can provide early relief, as the contraction usually returns with time.
