Classical Ehlers-Danlos syndrome: stretchy skin, loose joints and care

Ehlers-Danlos syndromes are, in the NHS's words, a group of rare inherited conditions that affect connective tissue. Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs and bones. The different types are caused by faults in certain genes that make connective tissue weaker.

The NHS lists classical EDS (cEDS) as one of the main types alongside hypermobile, vascular and kyphoscoliotic EDS. It is less common than hypermobile EDS and tends to affect the skin more.

The NHS notes that EDS can affect people in different ways: for some the condition is relatively mild, while for others symptoms can be disabling, and some of the rare, severe types can be life threatening.

According to the NHS, people with cEDS may have the following.

• Joint hypermobility and loose, unstable joints that dislocate easily.

• Stretchy skin.

• Fragile skin that can split easily, especially over the forehead, knees, shins and elbows.

• Smooth, velvety skin that bruises easily.

• Wounds that are slow to heal and leave wide scars.

• Hernias and organ prolapse.

The NHS says hypermobile EDS (hEDS) mainly involves joint hypermobility, joint pain, fatigue, easy bruising and problems such as digestive symptoms and dizziness on standing, and that there are currently no tests to confirm hEDS; diagnosis is based on history and examination. Vascular EDS, often considered the most serious, affects blood vessels and internal organs and can cause life-threatening bleeding. Kyphoscoliotic EDS involves spinal curvature, weak muscle tone from childhood and fragile eyes.

Some people have problems caused by hypermobility but not a specific EDS type, and may be diagnosed with hypermobility spectrum disorder (HSD), which the NHS says is treated in the same way as hEDS.

Because several types overlap, especially in joint symptoms, genetic assessment is used when one of the rare types is suspected.

The NHS advises seeing a GP if you have several troublesome symptoms of EDS, and says you do not usually need to worry if you only have a few symptoms that are not causing problems. Joint hypermobility on its own is relatively common, affecting around 1 in 30 people, and is unlikely to be caused by EDS if there are no other symptoms.

Because some rare types of EDS can be serious, it is sensible to raise unusual features such as very fragile skin or easy bruising with a GP rather than waiting.

The NHS says the GP may refer you to a rheumatologist if you have joint problems and they suspect EDS. If there is a possibility you may have one of the rare types, the GP can refer you to your local genetics service. A genetics specialist will ask about medical and family history, assess symptoms and may carry out a genetic blood test to confirm the diagnosis.

If further investigation is needed, the NHS says your hospital doctor can refer you to a specialist EDS diagnostic service based in Sheffield or London, and points to the Annabelle's Challenge website for more information.

The NHS says EDS can be inherited, but can also happen by chance in someone without a family history. Classical EDS follows autosomal dominant inheritance: the faulty gene is passed on by one parent and there is a 1 in 2 chance of each of their children developing the condition.

Genetic counselling can help you learn more about the cause of your condition, how it is inherited and what the chances are of passing it on to your children, according to the NHS.

There is no specific treatment, but the NHS says many of the symptoms can be managed with support and advice. A physiotherapist can teach exercises to strengthen joints, avoid injuries and manage pain. An occupational therapist can help with daily activities and equipment. Counselling and CBT may be useful for coping with long-term pain, and for certain types of EDS regular hospital scans can detect problems with internal organs.

On living with EDS, the NHS says it is important to be careful about activities that strain joints or risk injury, but also not to be overprotective. You may be advised to avoid some activities such as heavy lifting and contact sports, to wear protection for some activities, and to choose lower-risk activities such as swimming or pilates. If fatigue is a problem, energy conservation and pacing can be taught.

The NHS does not set out skin care for cEDS in detail, so it is worth asking your clinician about protecting fragile skin and managing wounds.

The Ehlers-Danlos Support UK describes itself as the UK's largest charity dedicated to the Ehlers-Danlos syndromes and hypermobility spectrum disorder, offering clear information, an advice line and more than 100 support groups across the UK. It also offers guides on benefits and work.

On the NHS, diagnosis for rare types is through genetics services and specialist diagnostic centres, with ongoing care from the GP, physiotherapy, occupational therapy and relevant specialists.

Private rheumatology or genetics consultations are available. Genetic testing and diagnostic criteria are the same, so it helps to have results sent to your GP and NHS genetics service so that long-term care and family testing stay coordinated.