Common Hypermobility Syndromes: EDS and Marfan Syndrome
Hypermobility syndromes, including Ehlers-Danlos Syndrome (EDS) and Marfan Syndrome, are genetic disorders characterized by unusually flexible joints and various systemic issues. While these conditions share some similarities, they also have distinct features and implications for health and physical activity.
Ehlers-Danlos Syndrome (EDS): EDS encompasses a group of connective tissue disorders primarily affecting the skin, joints, and blood vessel walls. The hypermobile type (hEDS) is the most common, marked by extreme joint flexibility, frequent dislocations, and chronic pain. Other symptoms can include stretchy skin, easy bruising, and gastrointestinal issues. Diagnosis is based on clinical evaluation and family history, often supported by genetic testing.
Marfan’s Syndrome:** Marfan Syndrome primarily affects the body's connective tissue, leading to features like long limbs, a tall and thin body type, and hypermobile joints. This condition can also impact the cardiovascular system, with potential complications including aortic enlargement and heart valve issues. Diagnosis involves a thorough clinical evaluation and genetic testing to confirm the presence of mutations in the FBN1 gene.
Management and Treatment: Both EDS and Marfan Syndrome require a multidisciplinary approach. Physiotherapy plays a crucial role in managing symptoms, focusing on strengthening muscles around hypermobile joints to improve stability and reduce pain. Regular monitoring and management of cardiovascular issues are vital for individuals with Marfan Syndrome. Lifestyle modifications, such as avoiding high-impact activities and using supportive devices, can help prevent injuries and improve quality of life.
Education and support are essential for individuals with hypermobility syndromes, as understanding their condition empowers them to manage symptoms effectively and seek appropriate care.