Skip to main content
Mother Nature AI
GeneticICD-10: Q79.6Affects approximately 1 in 5,000 people worldwide (all types combined)

Ehlers-Danlos Syndrome

Also known as: EDS, Hypermobility Syndrome, Connective Tissue Disorder

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders caused by defects in collagen structure, processing, or production, affecting the skin, joints, blood vessels, and other organs. The most common type, hypermobile EDS (hEDS), is characterized by joint hypermobility, chronic pain, and skin that bruises easily, while the vascular type (vEDS) can be life-threatening due to fragile blood vessels and organs. EDS is currently classified into 13 subtypes, each with distinct genetic causes and clinical features.

Symptoms

Overly flexible joints that dislocate or subluxate easily
Stretchy, fragile skin that bruises easily
Chronic joint and muscle pain
Delayed wound healing and widened, abnormal scarring
Chronic fatigue that is not relieved by rest
Digestive problems including GERD, IBS-like symptoms, and gastroparesis
Autonomic dysfunction including dizziness and rapid heart rate (POTS)
Dental crowding and fragile gums

Causes

  • Genetic mutations affecting collagen production or structure
  • Mutations in genes such as COL5A1, COL5A2 (classical EDS) or COL3A1 (vascular EDS)
  • Autosomal dominant or recessive inheritance patterns depending on subtype
  • Unknown genetic basis for hypermobile EDS (most common type)

Risk Factors

  • Family history of EDS or related connective tissue disorders
  • Having a parent with a confirmed EDS-causing gene mutation
  • Being female (hypermobile EDS is more commonly diagnosed in women)
  • Certain ethnic backgrounds depending on the subtype

Diagnosis

  • Clinical evaluation using the 2017 international diagnostic criteria
  • Beighton score assessment for generalized joint hypermobility
  • Genetic testing for specific collagen gene mutations (all types except hEDS)
  • Skin biopsy and electron microscopy for certain subtypes
  • Echocardiogram to assess for vascular or cardiac complications

Treatment

  • Physical therapy focused on joint stabilization and low-impact strengthening
  • Pain management with medications, including acetaminophen and prescription options
  • Bracing and supportive devices for unstable joints
  • Cardiovascular monitoring and beta-blockers for vascular EDS
  • Occupational therapy to adapt daily activities and protect joints
  • Surgical intervention for severe joint instability or organ complications

Prevention

  • No prevention exists as EDS is a genetic condition
  • Genetic counseling for family planning in affected individuals
  • Avoid high-impact activities and contact sports to protect fragile joints
  • Regular cardiovascular screening for vascular EDS patients
  • Proactive joint protection through physical therapy and assistive devices

When to See a Doctor

  • You have unusually flexible joints along with chronic pain or frequent dislocations
  • Your skin is extremely stretchy, bruises easily, or heals poorly
  • You have a family history of EDS or unexplained connective tissue problems
  • You experience chest pain, severe headaches, or signs of internal bleeding (vascular EDS emergency)

Frequently Asked Questions

Related Conditions

Arthritis

Musculoskeletal

Back Pain

Musculoskeletal

Anxiety Disorders

Mental Health

Have questions about Ehlers-Danlos Syndrome?

Ask Mother Nature AI for personalized, evidence-based guidance.

Ask about Ehlers-Danlos Syndrome

Medical Disclaimer: This content is for educational and informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider.

Content reviewed against peer-reviewed medical literature and clinical guidelines. Read our editorial standards.