Hypermobility syndrome

What is hypermobility syndrome?

Hypermobility spectrum disorder was previously known as joint hypermobility syndrome or benign hypermobility syndrome. The terminology was updated in 2017 when scientific advances showed genetic causes for nearly all variations of Ehlers-Danlos syndrome with the exception of hypermobile EDS (hEDS).¹

New terminology now uses "hypermobility spectrum disorders" as the new descriptor for joint hypermobility.

Hypermobility spectrum disorder should be considered in patients who have joint hypermobility with the presence of secondary musculoskeletal manifestations (trauma, chronic pain, disturbed proprioception, and other manifestations) but who do not have hEDS.¹

• Joint hypermobility is common and is found in up to 34% of children globally, being more common in girls and decreasing with age.²

• The prevalence has been found to be between 11 and 23% in adults aged between 18 and 24 years.³⁴

• Amongst professional dancers, the prevalence is significantly higher, being between 64.9 and 72%.⁵

• 8% of white people have joint hypermobility compared with 5% of Black people.⁶

• Approximately 3% of the general population are believed to have joint hypermobility.¹

Not everyone with hypermobile joints will have symptoms as a result. Patients with hypermobile joints are 40% more likely to describe pain than those without.¹

The main presenting features are joint hypermobility with exercise-related muscle and joint pains and some level of fatigue. However, there is enormous variability in symptom severity. Commonly the history is of:

• Joint and muscle pains typically start in the early to mid-teenage years but can present at any age.

• The pain is usually described as a dull or moderate ache.

• The pain can be limited to activities or can be constant; weight-bearing joints can be more significantly affected than others.

• Joint pains can be worse after activity and can improve when the intensity of the activity is reduced.

• There may be morning stiffness though this rarely lasts for longer than 30 minutes.

Hypermobile spectrum disorder is associate with a growing list of extra-articular manifestations, including:

• Mood disturbances.⁷ The aetiology is unclear but it is common to see associated:

  • Emotional distress.

  • Anxiety.

  • Panic attacks.

  • Depression.

  • Somatoform disorders.

• Fatigue. The aetiology is uncertain but possibly linked to muscle weakness. 84% of people with hypermobility spectrum disorder report fatigue.⁸

• Functional gastrointestinal disorders - thought to be possibly due to abnormal connective tissue, ligamentous laxity, altered gut-brain neurology and visceral hypersensitivity.⁹ People with HDS are more likely to experience:

  • Nausea..

  • Early satiety.

  • Vomiting.

  • Diarrhoea.

  • Constipation.

  • Rumination.

  • Bloating.

  • Reflux and heartburn.

• Dysautonomia.¹⁰ Up to 75% of people with HDS experience:

  • Orthostatic intolerance and hypotension.

  • Secretomotor symptoms such as abnormal sweating or dry mouth.

  • PoTS.

  • Raynaud's.

• Pelvic girdle pain¹¹ including:

  • Pelvic pain.

  • Dyspareunia.

  • Long latent phases of labour with rapid progression.

  • Association with endometriosis, PCOS, and fibroids.

• There is an association between hypermobility syndrome and ADHD ¹²as well as other neurodevelopmental and also psychiatric conditions. ¹³

Diagnosis ¹¹⁴

Diagnosis is clinical, when joint hypermobility can be demonstrated (using the Beighton hypermobility score) along with the presence of secondary musculoskeletal manifestations. Hypermobile Ehlers-Danlos (hEDS) syndrome must be excluded. This ideally requires a rheumatology referral (although in the current climate most NHS rheumatologists decline these referrals); the International Classification of the Ehlers-Danlos Syndromes by Malfait et al gives the EDS diagnostic criteria.¹⁵

It remains important to recognise that joint hypermobility is common without associated symptoms and does not necessarily need any intervention.¹⁴

Beighton hypermobility score¹⁶

The Beighton hypermobility score is a 9-point scoring system to quantify joint laxity and hypermobility. A higher score equates to higher joint laxity. The threshold for joint laxity in a young adult is 4-6, with scores above 4 correlating well with pain levels in patients diagnosed with benign joint hypermobility syndrome.

Beighton diagnostic criteria¹⁶

These accepted diagnostic criteria incorporate the Beighton scoring system, in combination with the presence of persistent symptoms.

Diagnosis of benign joint hypermobility syndrome requires two major criteria or one major and two minor, in the absence of diagnosed Ehlers-Danlos or Marfan's syndromes. Two minor criteria are considered enough for diagnosis if there is a clearly affected first-degree relative.

Major criteria

• Beighton score of 4 or more.

• Arthralgia for >3 months in four or more joints.

Minor criteria

• Beighton score of 1-3.

• Arthralgia for >3 months in one to three joints.

• Back pain for >3 months.

• Spondylosis/spondylolysis/spondylolisthesis.

• Dislocation/subluxation of more than one joint, or in one joint more than once.

• More than three soft tissue inflammatory conditions (eg, tenosynovitis, epicondylitis).

• Marfanoid habitus (tall, slim, span/height ratio >1.03, arachnodactyly, upper/lower segment ratio <0.89.

• Skin striae, thin skin, hyperextensible skin, papyraceous scars.

• Drooping eyelids, myopia or antimongoloid slant.

• Varicose veins, hernia or uterine/rectal prolapse.

The main differential diagnoses are the hereditary connective tissue disorders and inflammatory joint conditions:

• Ehlers-Danlos syndrome (type 3; hypermobility type): Ehlers-Danlos syndrome (EDS) is an umbrella term for a group of heritable soft connective tissue disorders characterised by generalised joint hypermobility, skin texture abnormalities, and visceral and vascular fragility or dysfunctions.¹⁷

• Marfan's syndrome.

• Juvenile idiopathic arthritis.

• Rheumatoid arthritis.

• Ankylosing spondylitis.

• Fibromyalgia.

There is recognition that access to specialists with knowledge of hypermobility spectrum disorders and to physiotherapists able to offer support and guidance is limited, leading to difficulties for patients and for GPs.¹²⁰

The focus for treatment should be on:

• Addressing the cause of the pain eg muscle imbalance.

• Reducing pain where possible.

• Maximising functional capacity and quality of life.

Treatment of autonomic dysfunction may improve pain and fatigue.

Lifestyle changes are potentially beneficial although there are limited studies. Weight loss, participation in exercise, and strengthening and stretching exercises to tighten muscles are likely to be beneficial.

CBT might be needed for patients who are fearful of exercise causing injury.

Pharmacological management is similar to that in other conditions causing chronic pain. Opioids should be avoided. Non-steroidal anti-inflammatories (both oral and topical), and SSRIs, SNRIs, or low-dose TCAs have been shown to have benefit. Baclofen or tizanidine may help with muscle spasticity. Tizanidine and TCAs may be harder for patients with orthostatic symptoms to tolerate. Patients with comorbid fibromyalgia may benefit from gabapentin or pregabalin.

Dr Mary Lowth is an author or the original author of this leaflet.