Ehlers-Danlos syndromes: symptoms, types, diagnosis and management

EDS can affect people very differently. The NHS says that for some people the condition is relatively mild, while for others symptoms can be disabling, and that some of the rare, severe types can be life threatening. The three features shared by several types are an increased range of joint movement, stretchy skin and fragile skin that breaks or bruises easily.

Beyond those, the symptoms depend on which type a person has. The next section sets out the main types as the NHS describes them.

The NHS lists hypermobile, classical, vascular and kyphoscoliotic EDS as the main types people ask about. Knowing the type matters because the risks and follow-up differ.

Connective tissue is the scaffolding of the body, and in EDS it is weaker than usual because of changes (faults) in particular genes. The NHS says that depending on the type, the faulty gene may be inherited from one parent or both, and that sometimes it occurs in the person for the first time.

Because there are 13 types, the label EDS can mean quite different things for different people. Some people have problems from hypermobility without meeting the criteria for a specific type. The NHS says they may be diagnosed with hypermobility spectrum disorder (HSD), which is treated in the same way as hEDS.

No. The NHS says joint hypermobility is relatively common, affecting around 1 in 30 people, and that it is unlikely to be caused by EDS if you do not have any other symptoms. You do not usually need to worry if you have only a few symptoms that are not causing problems.

See a GP if you have several troublesome symptoms of EDS.

A GP is usually the starting point. The NHS says the GP may refer you to a rheumatologist if you have joint problems and EDS is suspected, or to your local genetics service if one of the rare types is possible. The genetics specialist asks about medical and family history, assesses your symptoms and may carry out a genetic blood test.

For hEDS the NHS says there are currently no tests to confirm the diagnosis, so it is made from your medical history and a physical examination. If further investigation is needed, your hospital doctor can refer you to a specialist EDS diagnostic service.

The national EDS diagnostic service at London North West University Healthcare NHS Trust focuses on rare types, including classical, vascular, kyphoscoliotic and periodontal EDS, for adults and children, and covers England and Scotland. It accepts referrals from NHS specialists in secondary or tertiary care. It accepts referrals from GPs or private consultants only if there is a confirmed molecular diagnosis of a rare type or the person is a family member of someone with one.

The same service says it does not see people with suspected or confirmed hEDS or HSD and does not offer management of hypermobility. It suggests that people whose main complaints are pain or fatigue may benefit from an outpatient pain management or chronic fatigue service.

The NHS says there is no specific treatment for EDS, but it is possible to manage many symptoms with support and advice. Different healthcare professionals may be involved, and your GP or consultant can refer you to these services.

• Physiotherapist: teaches exercises to strengthen joints, avoid injuries and manage pain.

• Occupational therapist: helps with daily activities and advises on equipment.

• Counselling and CBT: may help if you are struggling to cope with long-term pain.

• Regular hospital scans: for certain types, to detect problems with internal organs.

• Genetic counselling: explains the cause, how EDS is inherited and the chances of passing it on to children.

The NHS says it is important to be careful about activities that put a lot of strain on your joints or risk injury, but also not to be overprotective and avoid an otherwise normal life. Advice depends on your type and how it affects you.

• You may be advised to avoid some activities entirely, such as heavy lifting and contact sports.

• For some activities you may need protection and teaching on how to reduce strain on your joints.

• Lower-risk activities such as swimming or pilates may be recommended to stay fit and healthy.

• If fatigue is a problem, you can be taught ways to conserve energy and pace your activities.

EDS can be inherited, but the NHS says it can also happen by chance in someone without a family history. There are two main patterns, summarised below.

The NHS says a person with EDS can only pass on the same type to their children, so the children of someone with hypermobile EDS cannot inherit vascular EDS. It also says severity can vary within the same family. Genetic counselling can explain how the condition is inherited and what the chances of passing it on are.

The NHS does not publish a list of emergency symptoms for EDS, but it does say that vascular EDS can cause blood vessels and organs to split open and lead to life-threatening bleeding. If you have vascular EDS or a possible diagnosis, treat sudden severe pain, collapse or heavy bleeding as an emergency: call 999 or go to A&E, and tell staff about your diagnosis.

For other concerns, such as a joint that will not go back into place or a new injury, NHS 111 can advise which service to use. See a GP if you have several troublesome symptoms of EDS.

On the NHS, a GP is the usual first step, with referral to rheumatology, genetics, physiotherapy, occupational therapy or pain services depending on your symptoms. For the rare types, hospital doctors can refer to the specialist national diagnostic services; the NHS notes services are based in Sheffield and London.

Some people choose a private rheumatologist, geneticist or physiotherapist for faster assessment. Be aware that the national diagnostic service accepts referrals from private consultants only in limited circumstances, and that for hEDS the diagnosis rests on clinical assessment. Bring a clear timeline of symptoms, your family history and results of earlier investigations to any appointment.

The NHS signposts Ehlers-Danlos Support UK and the Hypermobility Syndromes Association for information, advice and support groups. It also says that if you have EDS, your clinical team will pass information about you to the National Congenital Anomaly and Rare Diseases Registration Service, to help scientists find better ways to prevent and treat the condition, and that you can opt out at any time.