Ehlers-Danlos Syndrome is a group of disorders affecting the connective tissues—proteins that provide support to skin, bones, blood vessels, and other organs. These disorders are primarily genetic, resulting from a variety of mutations that affect collagen synthesis and processing, as well as other structures within the connective tissue matrix.
EDS encompasses 13 subtypes, each with distinct genetic markers and clinical criteria. These subtypes range from the more common Hypermobile EDS, which is often characterized by widespread joint hypermobility and pain, to the rarer Vascular EDS, which is associated with more severe complications such as arterial or organ rupture.
Connective tissue is present throughout the entire body, which can lead to a wide range of symptoms, including:
Hypermobile Joints: Joints move beyond the normal range with ease, leading to frequent subluxations and dislocations.
Stretchy, Fragile Skin: Skin can be soft, doughy, and stretch more than typical, and it may not heal well after injury, leading to scarring.
Chronic Pain: This can be a result of joint dislocations, gastrointestinal issues, or chronic fatigue.
Cardiovascular Complications: These may arise from the fragility of blood vessels and heart valves, potentially leading to serious risks like aneurysms or prolapses.
Diagnosis of EDS can be challenging. Genetic testing can confirm the diagnosis for some subtypes but not for others, like the hypermobile type, which lacks a specific genetic marker. A thorough physical examination for signs like hyperextensible skin and joint hypermobility, along with a detailed family and personal medical history, is critical.
While there is no cure for EDS, the management is tailored to the individual's symptoms and may involve:
Pain Management: This can include medications like NSAIDs, or more specific treatments like nerve pain modulators for neuropathic pain.
Cardiovascular Drug Therapy: Beta-blockers or angiotensin II receptor blockers are used to manage comorbid cardiovascular issues, reducing the stress on fragile blood vessels.
Physical Therapy: physical therapy is essential to strengthen muscles around vulnerable joints, improve proprioception, and reduce the risk of dislocations.
Bracing and Supports: Orthotic devices can be used to stabilize joints and prevent injury.
Surgical Interventions: These are considered cautiously, as individuals with EDS may have complications with wound healing and scar formation.
Comentarios