Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the body's connective tissues, which are responsible for supporting and structuring various organs and tissues. It is characterized by a range of symptoms and manifestations, mainly affecting the skin, joints, and blood vessels.
The disease is caused by mutations in genes responsible for producing collagen, the primary structural protein in connective tissues. Collagen abnormalities in people with EDS result in weakened or faulty connective tissues, leading to the characteristic features and complications associated with the syndrome.
Symptoms can vary widely among individuals with EDS, but common manifestations include hyperelastic and fragile skin, joint hypermobility, chronic joint pain, easy bruising, and abnormal wound healing. Some individuals may also experience vascular complications, such as an increased risk of aneurysms or organ rupture. EDS is often diagnosed through a combination of physical examination, medical history analysis, and genetic testing.
Treatment for EDS primarily focuses on managing symptoms and preventing complications. This may involve physical therapy to strengthen muscles and stabilize joints, pain management strategies, and monitoring for potential vascular complications. Additionally, genetic counseling may be recommended for affected individuals and their families to understand the inheritance pattern and make informed reproductive decisions.
Living with EDS can present challenges due to the chronicity and variability of symptoms, making appropriate medical management and support crucial for affected individuals.
