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What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders affecting the connective tissues that provide strength and elasticity to skin, joints and blood vessel walls. People with EDS produce defective collagen, resulting in overly flexible joints, soft or stretchy skin and fragile tissues. There are 13 recognised types of EDS, including hypermobile, classical, classical-like, cardiac-valvular and vascular. Symptoms range from joint pain and dislocations to thin skin that bruises easily and delayed wound healing. Severity varies widely among individuals.

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What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders affecting the connective tissues that provide strength and elasticity to skin, joints and blood vessel walls. People with EDS produce defective collagen, resulting in overly flexible joints, soft or stretchy skin and fragile tissues. There are 13 recognised types of EDS, including hypermobile, classical, classical-like, cardiac-valvular and vascular. Symptoms range from joint pain and dislocations to thin skin that bruises easily and delayed wound healing. Severity varies widely among individuals.

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What Causes Ehlers-Danlos Syndrome?

EDS is caused by mutations in genes responsible for producing or processing collagen and other connective tissue proteins. More than 20 genetic variants have been identified. Depending on the type, these mutations are inherited in autosomal dominant or recessive patterns or occur spontaneously. There is no cure; management focuses on symptom control and preventing complications.

Symptoms and Complications

Symptoms vary by type but may include hypermobile joints that dislocate easily, joint and muscle pain, chronic fatigue, soft or stretchy skin, easy bruising, slow wound healing, digestive issues, hernias and organ prolapse. Vascular EDS can cause blood vessel rupture and is potentially life-threatening. Some people experience brain fog and poor balance.

Diagnosis and Management

Diagnosis is based on medical history, clinical examination of skin and joints, and sometimes genetic testing. Management includes physical therapy to strengthen muscles, braces or orthotics to support joints, pain management, and careful surgical planning. Patients should avoid high-impact sports and activities that stress the joints. Regular monitoring is important, especially for vascular EDS.

Living With EDS

Living with EDS requires lifestyle adjustments. People should maintain a healthy weight, avoid activities that strain joints, and use mobility aids as needed. Cardiovascular monitoring is essential for vascular types. Genetic counselling can help families understand inheritance patterns. Support groups provide emotional and practical assistance.

Frequently Asked Questions

Is Ehlers-Danlos syndrome inherited?

Yes. Most types of EDS are inherited in an autosomal dominant or recessive pattern, though some cases result from spontaneous mutations. Genetic counselling can help families understand their risks.

What activities should be avoided?

Avoid high-impact sports, heavy lifting and activities that put excessive strain on joints. Low-impact exercises like swimming or cycling may help strengthen muscles without causing injury.

Can EDS be cured?

There is currently no cure for EDS. Treatment focuses on managing symptoms, preventing joint damage and addressing complications. Research on gene therapy may lead to future treatments.

How does EDS affect life expectancy?

Life expectancy is often normal for many types of EDS, but vascular EDS can significantly reduce life expectancy due to risk of arterial rupture. Regular medical follow-up and avoidance of risk factors improve outcomes.