Joint Hypermobility and Spectrum Disorders

Hypermobility is measured with the Beighton score, a nine-point scale made of five manoeuvres: passive dorsiflexion of each little finger beyond ninety degrees, passive apposition of each thumb to the forearm, hyperextension of each elbow beyond ten degrees, hyperextension of each knee beyond ten degrees, and forward flexion of the trunk with the palms flat on the floor and the knees straight. Under the 2017 criteria, generalised joint hypermobility (GJH) is present at a Beighton score of at least six before puberty, at least five from puberty to age fifty, and at least four over age fifty, with no separate sex-based cut-off. Because laxity decreases with age, a validated five-part questionnaire is used within the criteria when the Beighton score is one point below the age-specific threshold, rather than overriding any negative score. Prepubertal children are classified using the newer paediatric hypermobility framework and are not ordinarily diagnosed with hypermobile Ehlers-Danlos syndrome until biological maturity.

Classification then separates distinct entities rather than points on a severity ladder. Hypermobility without symptoms needs no label. Symptomatic hypermobility with musculoskeletal problems that does not meet the stricter criteria is a hypermobility spectrum disorder (HSD), which has generalised, peripheral, localised and historical subtypes. Hypermobile Ehlers-Danlos syndrome (hEDS) is diagnosed by applying the 2017 international criteria, which require generalised joint hypermobility together with specified systemic features, family history and musculoskeletal criteria, and the exclusion of other conditions. Importantly, HSD and hEDS are distinct diagnoses with substantial clinical overlap, and one is not necessarily more severe than the other. Hypermobile Ehlers-Danlos syndrome remains a clinical diagnosis with no confirmatory genetic test, which distinguishes it from the rarer, genetically defined types of Ehlers-Danlos syndrome.

The features of symptomatic hypermobility go beyond flexible joints. They include joint instability with subluxations and dislocations that occur with minimal trauma, chronic pain (whose mechanisms vary from person to person), fatigue, soft and stretchy (hyperextensible) skin, and easy bruising. Marked skin hyperextensibility or pronounced atrophic scarring is not typical of hypermobile Ehlers-Danlos syndrome and should instead raise concern for another Ehlers-Danlos subtype. There are recognised associations too, including autonomic dysfunction such as postural orthostatic tachycardia syndrome (POTS), functional gastrointestinal disorders such as irritable bowel syndrome, anxiety, and pelvic floor symptoms; these are reported more frequently but are neither diagnostic of hypermobility nor necessarily caused by it, so not every multisystem symptom is attributed to it.

An important clinical step is knowing when to look for a serious heritable connective tissue disorder, because some carry major cardiovascular or vascular risks. Not every hypermobile athlete needs echocardiography or genetics; referral is guided by whether the history or examination suggests a syndromic or vascular disorder. Marfan syndrome is suggested by tall stature, long fingers (arachnodactyly), lens dislocation and aortic root dilatation, and warrants an echocardiogram and specialist referral. Loeys-Dietz syndrome features arterial tortuosity and aneurysms. Vascular Ehlers-Danlos syndrome, suggested by thin translucent skin, extensive bruising and a family history of arterial or organ rupture, is a genetic diagnosis needing specialist input. Identifying these conditions changes management entirely, so their features are actively looked for where the picture suggests them.

There is no cure for hypermobility, and management is led by physiotherapy. The mainstays are graded strengthening, proprioceptive and neuromuscular control work, joint stabilisation, and pacing of activity. Rather than a blanket instruction never to load a joint near its end of range, controlled end-range strengthening may be appropriate and is used judiciously as part of an individualised programme. Pain is managed with a broad, function-focused approach, education is central so that the person understands their condition, and associated problems such as autonomic symptoms and functional gastrointestinal disorders are managed alongside.

In sport, hypermobility is not simply a problem. In gymnastics, dance, diving and swimming a wide range of movement can be an asset, and injury risk is not uniform: it varies by joint, sport, symptoms and conditioning, so sweeping claims that hypermobility always predisposes to injury are avoided. Conditioning is individualised to build strength and control around the mobile joints, return to sport after injury follows a graded increase in load with attention to neuromuscular control, and complex or multisystem presentations are managed by a multidisciplinary team. The overall aim is to keep the athlete active and strong while protecting vulnerable joints and addressing the wider features of the condition.

• •The Beighton score is out of 9; under the 2017 criteria generalised joint hypermobility is at least 6 before puberty, at least 5 from puberty to 50, and at least 4 over 50, with no separate sex cut-off.
• •The five-part questionnaire is used when the Beighton score is one point below the age-specific threshold; prepubertal children use the paediatric framework and are not usually diagnosed with hypermobile Ehlers-Danlos syndrome until maturity.
• •Hypermobility spectrum disorder and hypermobile Ehlers-Danlos syndrome are distinct diagnoses with substantial overlap, not a severity ladder; hypermobile Ehlers-Danlos syndrome is clinical with no confirmatory genetic test.
• •Associations such as postural orthostatic tachycardia syndrome and functional gastrointestinal disorders are reported more frequently but are not diagnostic or necessarily causal.
• •Not every hypermobile athlete needs echocardiography or genetics; refer where features suggest Marfan syndrome, Loeys-Dietz syndrome or vascular Ehlers-Danlos syndrome, and marked skin or scarring changes suggest another subtype.
• •Management is physiotherapy-led; controlled end-range strengthening may be appropriate, and injury risk varies by joint, sport, symptoms and conditioning.