Ehlers-Danlos Syndrome (EDS) is a group of rare genetic connective tissue disorders that affect the strength, elasticity, and structure of the body’s tissues. It can involve the skin, joints, ligaments, blood vessels, and internal organs. Although rare, EDS is important to understand because of the wide range of symptoms it can cause, from mild hypermobility to life-threatening vascular complications. This article explains what EDS is, its causes, symptoms, diagnosis, treatment options, and ways to live with the condition.

Ehlers-Danlos Syndrome is a collection of genetic conditions that impair the body’s ability to produce and process collagen, the key protein that provides connective tissue with strength and flexibility. There are currently 13 recognized subtypes of EDS, each with different genetic mutations and clinical presentations. Despite these differences, all subtypes share a problem with connective tissue fragility.

EDS was named after two physicians, Edvard Ehlers and Henri-Alexandre Danlos, who first described patients with the condition in the early 20th century. Once thought to be a single disorder, it is now recognized as a spectrum of related syndromes. Some types, such as vascular EDS (vEDS), carry significant risks due to fragile blood vessels and organs.

EDS results from mutations in genes that control collagen production, structure, or processing. Collagen is the structural protein that supports skin, joints, ligaments, blood vessels, and internal organs. Mutations weaken this scaffolding, leading to fragile tissues and the characteristic features of EDS.

Different EDS subtypes are linked to different genetic mutations:

• Classical EDS (cEDS): Caused by mutations in COL5A1 or COL5A2, affecting type V collagen. Symptoms often include hyperextensible skin and joint hypermobility.
• Vascular EDS (vEDS): Caused by mutations in COL3A1, affecting type III collagen. It can result in fragile blood vessels and life-threatening ruptures.
• Hypermobile EDS (hEDS): The most common form, but its genetic cause is not yet identified. Diagnosis relies on clinical criteria.

Most EDS types are inherited in an autosomal dominant pattern, where one mutated gene copy is enough to cause the condition. Some rarer forms follow autosomal recessive inheritance, requiring two faulty copies. In other cases, spontaneous mutations occur without prior family history.

The hallmark of EDS is abnormal collagen or related connective tissue proteins. This defective collagen leads to weakened structural support in multiple organs. The extent of dysfunction depends on the type of collagen involved and the mutation’s severity. For example, in vascular EDS, weakened type III collagen causes fragile arterial walls that can rupture. In hypermobile EDS, defective collagen leads primarily to joint instability and musculoskeletal pain.

Over time, repeated joint dislocations, fragile skin, and vascular risks accumulate, leading to chronic pain, fatigue, and possible organ complications. This makes EDS a systemic disorder that requires ongoing monitoring and individualized care.

EDS is considered rare, though its true prevalence is not fully known. Estimates suggest that the combined prevalence of all EDS types may be as high as 1 in 5,000 people worldwide. Hypermobile EDS is the most common subtype, while vascular EDS is rare but carries the highest risk of serious complications. EDS affects all genders and ethnicities, though symptom severity can vary within families and across individuals.

EDS symptoms vary by subtype, but many features are common. Some people experience mild symptoms that are manageable, while others face severe complications. Early recognition is important to guide care and prevent injury.

Joint symptoms:

• Hypermobility, appearing as double-jointedness or contortion-like movements
• Frequent dislocations or subluxations
• Chronic joint pain and instability
• Early-onset osteoarthritis

Skin abnormalities:

• Soft, velvety texture
• Stretchy (hyperextensible) skin
• Fragile skin prone to bruising or tearing
• Slow wound healing and widened scars

Vascular and organ complications:

• Fragile blood vessels with risk of rupture
• Arterial aneurysms and dissection
• Organ rupture (intestine, uterus, or lungs)

Other symptoms:

• Chronic musculoskeletal pain and fatigue
• Mitral valve prolapse and aortic dilation
• Gastrointestinal problems like reflux, constipation, or bloating
• Hernias and bladder dysfunction
• Dental and gum fragility
• Cognitive challenges (“brain fog”) linked to chronic pain

Diagnosing EDS can be challenging because its symptoms overlap with other connective tissue disorders. Evaluation requires a combination of medical history, physical examination, and genetic testing.

Clinical evaluation includes:

• Reviewing family and personal medical history
• Assessing joint hypermobility with the Beighton Score
• Examining skin texture, elasticity, and scarring
• Looking for signs such as bruising, hernias, or wound healing problems

Genetic testing:

• Identifies specific mutations in collagen-related genes
• Confirms most EDS subtypes, except hypermobile EDS (hEDS), which lacks a known genetic marker

Other diagnostic tools:

• Echocardiogram to check for heart and aortic abnormalities
• MRI or CT angiography for vascular complications
• Skin biopsy in rare cases to examine collagen structure

Differential diagnosis for Ehlers-Danlos Syndrome

EDS shares symptoms with several other connective tissue disorders, so differential diagnosis is essential. Physicians must rule out conditions with overlapping features:

• Marfan syndrome: Characterized by tall stature, long limbs, and cardiovascular complications
• Loeys-Dietz syndrome: Associated with arterial aneurysms and craniofacial anomalies
• Osteogenesis imperfecta: Causes brittle bones and frequent fractures

By distinguishing EDS from these conditions, doctors can provide the right treatment plan and prevent unnecessary interventions.

There is no cure for EDS, but treatment focuses on symptom management, preventing complications, and supporting quality of life. A multidisciplinary team approach is often required, involving geneticists, physical therapists, cardiologists, and pain specialists.

Physical therapy:

• Low-impact exercise such as swimming or yoga
• Postural training to reduce stress on joints
• Gentle strengthening and stretching routines

Pain management:

• Over-the-counter or prescription pain medications
• Nerve pain medications such as gabapentin
• Cognitive-behavioral therapy for coping with chronic pain

Joint and skin protection:

• Braces and taping to stabilize joints
• Avoiding contact sports and heavy lifting
• Using protective padding and gentle skin care

Surgery and vascular monitoring:

• Surgery only when necessary due to fragile tissues
• Specialized surgical techniques for safer outcomes
• Regular imaging to monitor blood vessels in vascular EDS

Genetic counseling:

• For patients and families planning pregnancy
• To understand inheritance risks and testing options

Lifestyle adaptations:

• Staying hydrated and eating high-fiber foods for gut health
• Using supportive footwear and ergonomic devices
• Practicing relaxation techniques for pain and fatigue
• Maintaining controlled blood pressure in vascular EDS
• Supplementing calcium and vitamin D for bone health

Complications vary by subtype but can be serious. Joint instability may lead to repeated injuries and early arthritis. Skin fragility increases infection and wound healing problems. In vascular EDS, arterial and organ ruptures can be life-threatening. Emotional and psychological effects, including chronic pain and fatigue, may also impact quality of life.

The outlook for people with EDS depends on the subtype and severity of symptoms. Many individuals with mild forms live normal lifespans with supportive care. Vascular EDS carries significant risks, with life-threatening events possible at a young age, but early diagnosis and careful monitoring improve outcomes. With better awareness and management, prognosis continues to improve.

Because EDS is genetic, it cannot be prevented. However, risk reduction strategies can help minimize complications. Early diagnosis allows families to take precautions, such as avoiding high-risk activities and monitoring cardiovascular health. Genetic counseling can help families understand inheritance risks and reproductive options.

Living with EDS requires daily management and lifestyle adjustments. Many people find physical therapy, mobility aids, and ergonomic supports useful. Coping with chronic pain and fatigue often involves both medical treatment and self-care strategies such as mindfulness and pacing activities. Emotional support and connecting with patient communities can also improve well-being.

Ehlers-Danlos Syndrome is a complex group of genetic conditions that affect connective tissue throughout the body. Symptoms range from joint hypermobility and fragile skin to serious vascular complications. While there is no cure, advances in genetics and medical care are improving diagnosis and management. With supportive care and preventive strategies, many individuals can live fulfilling and active lives.

1. Mayo Clinic Staff. Ehlers-Danlos syndrome – Symptoms and causes. Mayo Clinic. 2022.
2. MedlinePlus. Ehlers-Danlos syndrome. U.S. National Library of Medicine.
3. National Library of Medicine. Ehlers-Danlos syndrome. MedlinePlus Medical Encyclopedia.
4. Bowen JM, Sobey GJ, Burrows NP, et al. Ehlers–Danlos syndrome, classical type. GeneReviews. 2017.