Ehlers-Danlos Syndrome (EDS)

What causes EDS

Most types are caused by changes in genes that make collagen or the enzymes that process it. These changes weaken connective tissue throughout the body. Inheritance depends on the type:

• autosomal dominant (one copy from a parent is enough): hypermobile, classical and vascular EDS
• autosomal recessive: several rare types

The genetic cause of hypermobile EDS has not yet been identified, so it is diagnosed on clinical criteria rather than a gene test.

Main types

The 2017 international classification also introduced hypermobility spectrum disorders (HSD) for people with symptomatic hypermobility who do not meet full hEDS criteria. Management is similar. See hypermobility spectrum disorders.

Symptoms

Joints and muscles

• unusually flexible joints (joint hypermobility)
• frequent sprains, subluxations (partial dislocations) and dislocations
• joint and muscle pain, often widespread and chronic
• early osteoarthritis
• flat feet, back pain

Skin

• soft, velvety skin
• skin that stretches more than usual
• easy bruising
• slow wound healing and wide, thin scars
• stretch marks

Other common problems

• fatigue
• postural orthostatic tachycardia syndrome (POTS): dizziness and fast heartbeat on standing
• digestive problems: reflux, IBS-like symptoms, constipation
• bladder and pelvic floor problems, prolapse
• anxiety
• dental and gum problems
• headaches

Vascular EDS

Vascular EDS is the most serious type. People may have:

• thin, translucent skin with visible veins
• very easy bruising
• a characteristic facial appearance (thin nose and lips, prominent eyes)
• rupture of arteries, the bowel or the uterus, often in young adulthood
• collapsed lung

Median survival in vEDS is reduced, so diagnosis, monitoring and emergency planning matter.

Diagnosis

• Medical and family history
• Beighton score: a 9-point test of joint flexibility (bending the little fingers back, thumbs to the forearm, elbows and knees bending backward, palms flat on the floor). A score of 5 or more in adults (with age-adjusted thresholds) indicates generalized hypermobility
• hEDS criteria: generalized hypermobility plus features of a connective tissue disorder or family history, plus musculoskeletal complications, after ruling out other conditions
• Genetic testing for classical, vascular and other types
• Echocardiogram to check the aortic root and heart valves
• Assessment for POTS and other associated conditions

Conditions to distinguish include Marfan syndrome, Loeys-Dietz syndrome and other heritable connective tissue disorders.

Management

There is no cure, but symptoms can be managed with a coordinated team.

Physical therapy and activity

• strengthening exercises to stabilize joints
• proprioception and balance training
• low-impact activities such as swimming, cycling and Pilates
• avoiding activities that repeatedly push joints to extremes
• bracing and taping for unstable joints
• occupational therapy for joint protection and adaptive equipment

Pain management

• acetaminophen (paracetamol) and NSAIDs, following the label dose
• treatments for nerve-type pain
• psychological approaches such as CBT and pacing
• caution with long-term opioids

Related conditions

• POTS: increased fluids and salt, compression garments, exercise, medicines
• digestive symptoms, pelvic floor therapy, dental care

Vascular EDS

• avoid contact sports, heavy lifting and invasive procedures where possible
• control blood pressure
• celiprolol is used in some centers to reduce arterial events
• regular arterial imaging
• an emergency card and plan for sudden pain
• specialist care for surgery and pregnancy

Outlook

People with hEDS and classical EDS have a normal life expectancy, though chronic pain and fatigue can significantly affect quality of life. Vascular EDS carries a reduced life expectancy, but monitoring and preventive care help reduce complications.

Frequently asked questions

What are the symptoms of Ehlers-Danlos syndrome?

Common symptoms are very flexible joints that dislocate easily, joint and muscle pain, soft stretchy skin, easy bruising, poor wound healing and fatigue. Many people also have dizziness on standing, digestive problems and anxiety. Vascular EDS can cause artery or organ rupture.

What is the most common type of EDS?

Hypermobile EDS is by far the most common type. It mainly affects joints, causing hypermobility, dislocations and chronic pain, with milder skin changes. Its genetic cause is not yet known, so it is diagnosed using clinical criteria.

How is EDS diagnosed?

Doctors use a detailed history, family history, the Beighton score for joint flexibility and specific clinical criteria. Genetic testing confirms classical, vascular and rarer types. Hypermobile EDS has no genetic test yet.

Is Ehlers-Danlos syndrome life-threatening?

Most types, including hypermobile EDS, do not shorten life. Vascular EDS is the exception, because arteries, bowel and uterus can rupture. People with vascular EDS need specialist monitoring and an emergency plan.

Can EDS be cured?

No. EDS is lifelong, but symptoms can be managed with physical therapy to stabilize joints, pain management, treatment of related conditions such as POTS, and, in vascular EDS, careful monitoring and blood pressure control.