Ehlers-Danlos Syndrome (EDS)

Overview

• Ehlers-Danlos Syndromes (EDS) are a group of 13 genetic connective tissue disorders.
• Common symptoms: loose joints, joint pain, stretchy velvety skin, abnormal scar formation.
• Complications can include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.
• The classification was last updated in 2017.
• EDS is caused by mutations in one or more of 19 genes affecting collagen or tenascin.
• Diagnosis is based on symptoms and genetic testing, although hypermobile EDS (hEDS) lacks a genetic marker.

Types of EDS

• Hypermobile EDS (hEDS): Characterized by hypermobility of large and small joints, skin that is soft and velvety, and chronic pain.
• Classical EDS: Features extremely elastic skin, joint hypermobility, molluscoid pseudotumors, and spheroids. Genetic variations in COL5A1, COL5A2, and COL1A1.
• Vascular EDS: Skin is thin and translucent, fragile blood vessels. Characterized by thin skin and a high risk of arterial rupture. Genetic variations in COL3A1.
• Brittle-Cornea Syndrome: Progressive thinning of the cornea, nearsightedness, hearing loss. Genetic variations in ZNF469 and PRDM5.
• Arthrochalasia EDS: Severe joint hypermobility, congenital hip dislocation. Genetic variations in COL1A1 and COL1A2.
• Kyphoscoliosis EDS: Severe hypotonia, progressive scoliosis, and osteopenia. Genetic variations in PLOD1 or FKBP14.

Diagnosis and Treatment

• Diagnosis often involves genetic testing and physical examination.
• Beighton criteria are used to assess joint hypermobility.
• Treatment is supportive, including physical therapy, bracing, and pain management.
• No known cure; management focuses on alleviating symptoms.

Complications

• Cardiovascular: Mitral valve prolapse, aortic root dilation, aneurysms.
• Musculoskeletal: Early onset osteoarthritis, chronic pain, spinal deformities.
• Skin: Stretchy, fragile skin, poor wound healing.
• Gastrointestinal: Functional problems like delayed gastric emptying.
• Neurological: Dysautonomia, headaches, craniocervical instability.

Social and Cultural Impact

• Several well-known individuals, including musicians and actors, have been diagnosed with EDS.
• EDS has been represented in media, raising awareness of the condition.

Research and Genetic Studies

• Ongoing research to identify genetic markers for hEDS.
• HEDGE study aims to discover potential genetic causes for hEDS.

Prognosis

• Varies based on type; vascular EDS has a lower life expectancy due to risk of arterial rupture.
• Most individuals have a normal lifespan but may face significant quality-of-life challenges due to symptoms.

Key Takeaways

• EDS is a complex condition with varying symptoms and severity based on subtype.
• Proper diagnosis and management are crucial for improving quality of life.
• Awareness and understanding among healthcare professionals and the public are important for support and treatment.