Ehlers-Danlos syndrome (EDS) refers to a group of rare, inherited connective tissue disorders primarily affecting the skin, joints, blood vessels, and other supportive structures. EDS is caused by genetic mutations that impact collagen—a key protein responsible for maintaining the integrity and elasticity of connective tissues. When collagen production or structure is faulty, tissues become fragile, overly stretchy, and unstable.

The condition can lead to a variety of symptoms, ranging from hypermobile joints and fragile skin to life-threatening complications like organ or blood vessel rupture. The severity and manifestation of EDS can vary significantly depending on the specific type.

Types of EDS

There are several recognized subtypes of Ehlers-Danlos syndrome, each defined by the affected genes, clinical symptoms, and inheritance pattern:

Hypermobile EDS (hEDS):

  • Most common form

  • Characterized by joint hypermobility, chronic joint pain, frequent dislocations

Classical EDS (cEDS):

  • Divided into Type I and II

  • Features include skin hyperextensibility, fragile skin, and mild joint hypermobility

Classical-like EDS:

  • Similar to cEDS but with variations in wound healing and gastrointestinal symptoms

Vascular EDS (vEDS):

  • Life-threatening type

  • Causes spontaneous arterial, intestinal, or uterine ruptures

Kyphoscoliotic EDS:

  • Present at birth

  • Involves muscle weakness, spinal curvature, respiratory problems, and hearing loss

Arthrochalasia EDS:

  • Rare

  • Marked by extreme joint looseness, hip dislocations, and short stature

Dermatosparaxis EDS:

  • Focused on skin abnormalities

  • Leads to saggy, fragile, doughy-textured skin and hernias

Brittle Cornea Syndrome (BCS):

  • Primarily affects the eyes

  • Causes corneal thinning, rupture, and severe myopia

Common Symptoms

While symptoms vary by type, several features are commonly seen across most EDS types:

  • Excessive joint mobility (joint hypermobility)

  • Frequent joint dislocations and instability

  • Muscle hypotonia (low muscle tone)

  • Chronic musculoskeletal pain

  • Soft, velvety, stretchy skin (skin hyperextensibility)

  • Easy bruising and slow wound healing

  • Atrophic scars that widen over time

  • Translucent or fragile skin

  • Organ or vessel rupture (especially in vEDS)

These symptoms may develop gradually or be present from birth. Some individuals experience mild symptoms while others live with severe disability.

Underlying Causes

EDS is caused by mutations in genes responsible for collagen production and function. These include COL5A1, COL5A2 (for classical EDS), COL3A1 (for vascular EDS), and TNXB (linked to hypermobile EDS).

Inheritance patterns include:

  • Autosomal dominant: Only one copy of the mutated gene is needed (common in hEDS, cEDS, and vEDS)

  • Autosomal recessive: Two copies of the mutated gene are needed (seen in kyphoscoliotic, brittle cornea, and dermatosparaxis types)

In rare cases, spontaneous (de novo) mutations can occur without a family history.

Diagnostic Process

Diagnosing EDS involves clinical examination, family history analysis, and, in some cases, genetic testing.

Physical assessment includes:

  • Evaluating joint hypermobility using the Beighton Score

  • Testing skin for hyperextensibility (skin that stretches beyond 1.5–4 cm)

Beighton Score sample questions:

  • Can you bend your thumb to touch your forearm?

  • Can you place your hands flat on the floor without bending your knees?

  • Have your joints (shoulder, knee, etc.) dislocated multiple times?

  • Do you consider yourself double-jointed?

Confirmatory testing may include:

  • Genetic testing (to identify gene mutations)

  • Skin biopsy (rarely used today)

  • Echocardiograms for vascular complications

Referral to a geneticist or specialized connective tissue clinic is often needed for accurate diagnosis and classification.

Management and Treatment

There is no cure for EDS, but treatment focuses on managing symptoms, reducing complications, and enhancing quality of life.

Lifestyle and physical activity adjustments:

  • Avoid high-impact sports (e.g., weightlifting, gymnastics)

  • Emphasize low-impact exercises: swimming, walking, biking

  • Use joint-stabilizing braces or supports if needed

Physical therapy:

  • Customized programs to strengthen muscles and stabilize joints

  • Helps reduce pain and improve mobility

Wound care:

  • Use extra stitches or prolonged healing time for wounds

  • Monitor scars for abnormal formation

Cardiovascular monitoring:

  • Blood pressure control to reduce risk of vessel rupture

  • Regular screening with a cardiologist, especially in vEDS

Assistive devices:

  • Canes, braces, wheelchairs, or mobility scooters

  • Chosen based on the individual’s mobility needs

Pain management:

  • NSAIDs like ibuprofen or acetaminophen

  • Prescription medications if over-the-counter pain relief is insufficient

  • Avoid opioids unless absolutely necessary

Mental health support:

  • Counseling or therapy for coping with chronic illness

  • Support groups for shared experiences and guidance

Preventive Measures

EDS cannot be prevented, but understanding genetic risk can aid in family planning.

Genetic counseling is recommended if:

  • You have a family history of EDS

  • You or your partner are carriers of known EDS mutations

Inheritance considerations:

  • Dominant types: 50% chance of passing to offspring

  • Recessive types: 25% chance if both parents are carriers

Knowing your family’s genetic background can guide informed decisions about having children and preparing for potential complications.

Living With EDS

Living with Ehlers-Danlos syndrome presents daily challenges, but a supportive care network can greatly improve quality of life.

Tips for living well with EDS:

  • Build a healthcare team including a primary physician, physical therapist, geneticist, and cardiologist

  • Wear a medical alert bracelet in case of emergencies

  • Educate yourself and others about the condition

  • Consider therapy for emotional well-being

  • Explore financial aid or rare disease organizations for support

Organizations like the Ehlers-Danlos Society and NORD (National Organization for Rare Disorders) offer valuable resources, including educational tools, support groups, and financial assistance.