Hypermobility spectrum disorder (HSD): symptoms, diagnosis and treatment

Hypermobility describes an increased range of movement in several joints for a person's age. A Hull University Teaching Hospitals leaflet explains that ligaments, which stabilise joints, are lax in hypermobility so the joints have more give, and that it is considered a normal finding by medical professionals. Age, gender, ethnic background and family history all influence how flexible someone is.

The word spectrum is deliberate. The NHS says most experts regard joint hypermobility syndrome as part of a spectrum of hypermobility disorders that includes Ehlers-Danlos syndrome. At one end are people whose flexibility causes no trouble, in the middle are those with symptoms but no specific syndrome (HSD), and at the other end are the inherited connective-tissue conditions.

HSD is the diagnosis used when problems are caused by hypermobility but the person does not have any of the specific EDS conditions. The NHS says it is treated in the same way as hypermobile EDS.

The NHS says some people with joint hypermobility syndrome do not have symptoms. Where there are symptoms, you or your child may:

• often get tired, even after rest

• keep getting pain and stiffness in the joints or muscles

• keep getting sprains and strains

• keep dislocating joints (they "pop out")

• have poor balance or co-ordination

• have thin, stretchy skin

• have bladder or bowel problems

The NHS says joint hypermobility usually affects children and young people and often gets better as you get older. The Hull leaflet, written for children and families, says most children are very bendy compared with older people and that in most cases hypermobility peaks at around the age of five. Many children are hypermobile without symptoms, and for some, such as dancers and gymnasts, it can be an advantage.

For children who do have difficulties, the leaflet lists more stumbles or falls (often called clumsiness), flat feet, tiredness after walking long distances, pain in muscles and joints, joint swelling lasting less than a few days, clicky joints and difficulty with fine motor skills such as handwriting, using cutlery and dressing.

It says problems are often related to reduced muscle strength and stamina and control of joint movement, and that how many symptoms a child has is not necessarily related to how hypermobile they are. Joint swelling for a few days after activity is not uncommon and usually settles without treatment.

The main advice is that the main risk comes from preventing children from living normal lives. Children should be encouraged to stay active. Unless told otherwise they should continue PE as much as possible, although heavy-contact sports such as rugby may need to be modified.

There is no single blood test. The NHS says the GP will usually test for joint hypermobility syndrome by checking joint flexibility using the Beighton scoring system, and may refer you for a blood test or X-ray to help rule out other conditions such as arthritis. For hypermobile EDS, the NHS says there are currently no tests to confirm it and the diagnosis is made from medical history and a physical examination.

Because hypermobility is common, the NHS advises that you do not usually need to worry if you only have a few symptoms that are not causing problems, and that hypermobility is unlikely to be caused by EDS if you have no other symptoms.

If one of the rarer EDS types is possible, the NHS says a GP can refer you to your local genetics service, and a hospital doctor can refer on to a specialist EDS diagnostic service in Sheffield or London if further investigation is needed. A rheumatologist (joint specialist) may be involved if the joints are the main problem.

The NHS says there is no cure for joint hypermobility syndrome. The main treatment is improving muscle strength and fitness so joints are better protected. A GP may refer you to a physiotherapist, occupational therapist or podiatrist, and you can also pay for these services privately. They can help to reduce pain and the risk of dislocations, improve muscle strength and fitness, and improve posture and balance.

For joint pain, the NHS says paracetamol and anti-inflammatory painkillers such as ibuprofen may help, and a pharmacist can advise which suits you. A GP may be able to prescribe stronger painkillers, and if you are in severe pain a GP may be able to refer you to a pain clinic. Warm baths, hot water bottles and heat-rub cream can ease pain and stiffness.

The NHS also notes that counselling and cognitive behavioural therapy (CBT) can help people with EDS who are struggling to cope with long-term pain, a point that may apply to others with persistent symptoms.

• Start with low-impact exercise such as swimming or cycling if you have not been active. The NHS says doing no exercise can make symptoms worse.

• Maintain a healthy weight and wear supportive shoes, with orthotic insoles if a podiatrist recommends them.

• Do not overextend your joints just because you can, and avoid repetitive exercises or activities without regular breaks (pacing).

The Hull leaflet describes pacing as planning activity across the day and week to keep intensity low, with short rests where needed, because muscles that are not used regularly become de-conditioned and hurt more the next time. It suggests an activity diary to spot busy days that could be spread out, and alternating light and heavier tasks.

Joint protection tips from the same leaflet include using the strongest, largest joints for a task, carrying heavy objects close to the chest, avoiding a tight fist and narrow handles, moving each joint through its range at least once a day, and avoiding sudden jerking or bouncing movements and "party tricks" that overstretch a joint. For handwriting, it suggests releasing the grip every 5 to 10 minutes and trying a thick, grippy pen.

The NHS EDS page adds that it is important not to be overprotective: you should be careful about activities that put a lot of strain on joints, but it is also important not to avoid an otherwise normal life. Lower-risk activities such as swimming or pilates may be recommended, and if fatigue is a problem you can be taught ways to conserve energy and pace your activities.

The NHS describes Ehlers-Danlos syndromes (EDS) as a group of rare inherited conditions affecting connective tissue, with 13 types, most of them rare. Hypermobile EDS (hEDS) is the most common. Some of the rare, severe types can be life threatening, which is why a GP who suspects one of them will consider referral to genetics.

The NHS says joint hypermobility syndrome can run in families and cannot be prevented. Usually the joints are loose and stretchy because the ligaments that should make them stronger and support them are weak, because the collagen that strengthens the ligaments is different from other people's.

Some conditions that include joint hypermobility, such as Ehlers-Danlos syndrome and Marfan syndrome, are mentioned in the Hull leaflet, which is why a clinician will consider whether another diagnosis explains the picture.

The NHS says to see a GP if you think you or your child might have joint hypermobility syndrome. The Hull leaflet advises seeking advice from your child's GP if you have major concerns or if they have frequent and severe pain. For EDS, the NHS says to see a GP if you have several troublesome symptoms.

Fragile skin that breaks or bruises easily, or dizziness and a fast heart rate on standing, are worth raising with a GP because the NHS lists them among EDS features. If you have sudden severe pain, a joint that cannot be moved, or other severe symptoms, use NHS 111 or call 999 in an emergency.

On the NHS, assessment begins with a GP, who may refer you to physiotherapy, occupational therapy, podiatry, a pain clinic, rheumatology or genetics. The NHS also notes that physical therapies can be paid for privately. Whichever route you use, ask for a written plan and share any report with your GP so your record is complete.