Ehlers-Danlos syndromes (EDS)

The Ehlers-Danlos syndromes are a group of inherited, or heritable, disorders of connective tissue. Connective tissue is the collagen-rich material that gives the skin, ligaments, tendons, blood vessels and internal organs their strength, support and elasticity. In EDS, a difference in the gene for collagen or a closely related protein leaves this tissue more stretchy or more fragile than it should be, and that single underlying theme produces the wide range of features seen across the different types.

EDS runs in families. Depending on the type, it can be passed on in a dominant pattern, where a parent with the condition has a one in two chance of passing it to each child, or a recessive pattern, where the condition appears only when a gene change is inherited from both parents. Thirteen types are recognised in the 2017 international classification. They differ in which tissues are most affected, in how they are inherited and in how they are diagnosed, so it is helpful to think of EDS not as a single condition but as a family of related ones.

The 2017 international classification names thirteen types. Hypermobile EDS is by far the most common; the others are rare. Every type except hypermobile EDS has an identifiable gene, which means it can usually be confirmed with genetic testing.

• Hypermobile EDS (hEDS) the most common type, dominated by joint hypermobility, instability and pain, with no gene test yet available
• Classical EDS (cEDS) very stretchy, fragile skin that splits easily and heals into wide scars, alongside joint hypermobility
• Classical-like EDS (clEDS) resembles classical EDS with soft, stretchy skin, but has a different genetic cause and no unusual scarring
• Cardiac-valvular EDS (cvEDS) skin and joint features together with progressive problems of the heart valves
• Vascular EDS (vEDS) fragile arteries and hollow organs that carry a risk of serious rupture, generally regarded as the most serious type
• Arthrochalasia EDS (aEDS) severe generalised hypermobility with a strong tendency to dislocation, including of the hips from birth
• Dermatosparaxis EDS (dEDS) extremely fragile, soft and sagging skin
• Kyphoscoliotic EDS (kEDS) curvature of the spine present from early life, with low muscle tone and marked hypermobility
• Brittle cornea syndrome (BCS) thin, fragile corneas that are prone to injury, with other connective tissue features
• Spondylodysplastic EDS (spEDS) short stature and differences in bone development alongside hypermobility
• Musculocontractural EDS (mcEDS) distinctive facial features, joint contractures and fragile skin
• Myopathic EDS (mEDS) low muscle tone and muscle weakness with contractures of the joints
• Periodontal EDS (pEDS) severe, early gum disease with loss of the tissue that anchors the teeth

Hypermobile EDS is the type that rheumatology sees most often, and the one this practice is most likely to assess. Its central feature is generalised joint hypermobility, where many joints move beyond the usual range, but in hEDS this comes with symptoms: joints that feel unstable or that partly dislocate, pain that is often widespread and persistent, easy bruising, and frequently fatigue and digestive or light-headedness symptoms as well.

Unlike the other types, hEDS has no known gene, so there is no blood test for it. It is a clinical diagnosis, made against agreed 2017 criteria that bring together three things: generalised joint hypermobility, measured with a simple nine-point examination known as the Beighton score; a defined combination of additional features, a supporting family history and certain other findings; and the exclusion of other conditions that could explain the picture. Meeting the criteria takes a careful history and examination rather than a single test.

It helps to see hEDS as one part of a wider spectrum. At one end is simple joint hypermobility, which is common and often causes no trouble at all. Where flexible joints do cause symptoms but the full hEDS criteria are not met, the term used is hypermobility spectrum disorder (HSD). HSD and hEDS are managed in much the same way, and the distinction matters less for treatment than for understanding. The joint hypermobility syndromes guide covers this spectrum in more general terms, and this page is its detailed EDS companion.

Vascular EDS deserves a clear but calm word of its own. It is rare, but it affects the walls of the arteries and some hollow organs, such as the bowel and the womb, which can become fragile and, uncommonly, tear without much warning. This is why it is generally considered the most serious type, and why it is managed differently from the others.

The practical point is one of recognition. Anyone in whom vascular EDS is suspected, whether from their own features or a family history of arterial or organ rupture at a young age, should be referred to a clinical genetics service, where the diagnosis can be confirmed with genetic testing and the right monitoring and specialist care arranged. Knowing the diagnosis changes how new symptoms are assessed and allows a considered plan to be put in place. For the great majority of people being assessed for hypermobility and joint pain, vascular EDS is not the explanation, but it is a type worth keeping in mind so that the rare case is not missed.

How EDS is diagnosed depends on the type. For the twelve rarer types, each of which has an identifiable gene, diagnosis is confirmed by genetic testing, usually arranged through a clinical genetics service after the pattern of features raises the possibility. Hypermobile EDS is different: with no gene test available, it is recognised clinically, from generalised joint hypermobility on the Beighton score, the additional features and family history required by the criteria, and the careful exclusion of other explanations.

A rheumatology assessment begins with a detailed history and examination, looking at how the joints move and behave, the skin, and any features pointing towards a particular type. Where individual joints or soft tissues are painful, point-of-care ultrasound can be used during the consultation to look directly at the tendons and other structures around them and to check for any inflammation; Dr Borukhson uses ultrasound in the clinic, and you can read more on the ultrasound clinic page. Where a rarer or more serious type is suspected, onward referral to clinical genetics is arranged so that testing and any specialist monitoring can follow.

There is no cure for hypermobile EDS, and care is led by physiotherapy. The foundation is a graded, individually tailored exercise programme that builds up the muscles supporting and steadying the joints, so that they are held more securely and painful partial dislocations become less frequent. Progress is gradual and depends on consistency, so a sustainable routine matters more than intensity.

Around this sit several other strands. Advice on joint protection helps you use the joints in ways that reduce strain during everyday tasks. Pacing, balancing activity with rest, is important because overdoing things on a good day often provokes a flare. Pain is managed with simple measures first, and where it is persistent or affects sleep and mood, a broader approach is taken, drawing on the principles set out in the fibromyalgia guide. Recurrent soft-tissue problems such as tendinopathy, and back and neck pain, are common and are addressed as part of the same plan. Because hEDS can bring fatigue and symptoms beyond the joints, a wider team is sometimes involved, and any medication is used thoughtfully and reviewed over time.

Steady, practical habits make a real difference alongside your physiotherapy programme, and the aim is to keep the joints strong and stable without overloading them.

• Keep gently and regularly active. Low-impact activity such as swimming, cycling or Pilates builds supporting muscle while being kind to the joints, and keeping up movement between physiotherapy sessions helps the gains hold.
• Protect your joints. Avoid pushing joints to their extreme range, including end-of-range stretching, and vary your position rather than holding one posture for long periods.
• Pace your energy. Balance activity with rest and stop before you are exhausted, particularly if fatigue is part of your picture.
• Mind the everyday details. Supportive footwear and good posture at desks and screens reduce strain, and looking after your skin matters where it is fragile or slow to heal.
• Look after sleep and mood. Poor sleep and low mood often travel with long-term pain and deserve support in their own right; they are not a sign that the symptoms are imagined.

Many people find that, once the pattern is understood and a suitable plan is in place, symptoms become more predictable and easier to live with.

Most symptoms of hypermobile EDS can be reviewed routinely, but some situations need prompter attention, and a few are emergencies. If you have a confirmed or suspected diagnosis of vascular EDS, sudden severe pain deserves particular caution.

Call 999 or go to A&E if you have:

• Sudden severe chest, abdominal or back pain, especially with feeling faint or unwell, which in vascular EDS can signal a tear and always needs urgent assessment
• Sudden breathlessness, or coughing or vomiting blood
• Sudden weakness, numbness or difficulty speaking, which may point to a stroke

Arrange an urgent or same-day assessment if you have:

• A joint that has fully dislocated and will not go back into place
• A wound that is gaping or will not stop bleeding
• Repeated fainting or blackouts

Seek a routine specialist review if you notice:

• Joints that dislocate or partly dislocate repeatedly, or feel persistently unstable
• Pain that is steadily worsening, or new symptoms beyond the joints such as marked fatigue or digestive upset
• A family history of EDS, or of arterial or organ rupture at a young age, that you would like assessed

When you are unsure how quickly to act, it is always reasonable to be checked.

The Ehlers-Danlos syndromes are often misunderstood and, in the case of hypermobile EDS, frequently overlooked, partly because there is no test for it and partly because its features are spread across the body. A clear assessment can establish whether your symptoms fit hEDS, hypermobility spectrum disorder or simple hypermobility, recognise the rare situations that need genetic testing or specialist referral, and set out a practical, physiotherapy-led plan. Reaching the right understanding brings both reassurance and direction, and for symptomatic hypermobility that clarity is often the first real step towards feeling more stable and in control.

What are the Ehlers-Danlos syndromes?

The Ehlers-Danlos syndromes (EDS) are a group of inherited conditions that affect connective tissue, the material that supports the skin, joints, blood vessels and internal organs. In EDS a difference in how collagen or a related protein is made leaves the tissue more stretchy or more fragile than usual. Thirteen types are recognised in the current international classification. They range widely in how they behave, from hypermobile EDS, which is the most common and mainly affects the joints, to rare types that chiefly involve the skin, the eyes, the skeleton or the blood vessels.

Is hypermobile EDS the same as being double-jointed?

No. Many people have flexible, or hypermobile, joints and never have any trouble from them. Hypermobile EDS (hEDS) is diagnosed only when hypermobility comes with a specific combination of other features, a supporting family history and no better explanation, using agreed criteria. Between simple hypermobility and hEDS sits hypermobility spectrum disorder, where flexible joints cause symptoms but the full hEDS criteria are not met. You can read more in the joint hypermobility syndromes guide; this page is its detailed EDS companion.

Can EDS be diagnosed with a blood test?

For most types, yes. All the types except hypermobile EDS have an identifiable gene, so a genetic blood test, usually arranged through a clinical genetics service, can confirm the diagnosis. Hypermobile EDS is the exception: there is no gene test for it yet, so it is diagnosed clinically from the pattern of joint hypermobility, the other features present, the family history and the exclusion of other conditions.

What makes vascular EDS more serious than the others?

Vascular EDS is rare, but it affects the walls of the arteries and some hollow organs, which can become fragile and, uncommonly, tear. Because of this it needs specialist care and a clear plan, and anyone in whom it is suspected should be referred to a clinical genetics service for confirmation. It is not something to panic about, but it is a type worth recognising, because knowing the diagnosis changes how symptoms are assessed and how care is organised.

How is hypermobile EDS treated?

There is no cure, and management is led by physiotherapy. The core of it is a graded programme to strengthen the muscles that support and steady the joints, together with advice on protecting the joints, pacing activity and managing pain. Because hEDS can bring fatigue and other symptoms beyond the joints, a wider team is sometimes involved. Most people improve with a steady, consistent approach, though the gains build gradually as strength develops.