Joint Hypermobility Syndrome
Hypermobile joints (JHM) are common, occurring in 10-20% of Western populations and even more common in people of Indian, Chinese and Middle Eastern origin.
If they are asymptomatic, these are simply people with hypermobility.
It is important to distinguish them from patients with Joint Hypermobility Syndrome (JHS), where there are symptoms associated with the hypermobility and they meet the Brighton Criteria for diagnosis of this condition.
The Joint Hypermobility Syndrome (JHS) is a multi-system inherited connective tissue disorder thought to be caused by faulty fibrous tissue matrix proteins such as collagen. It is indistinguishable from Ehlers-Danlos Syndrome – Hypermobility type (previously known as Ehlers-Danlos type III). Musculoskeletal problems include joint pain, recurrent sprains, dislocations, fractures, tendonitis, bursitis, premature osteoarthritis, osteoporosis and chronic pain syndrome. Symptoms also may include fatigue, autonomic disorders, proprioceptive (awareness of joint movement and position) problems, skin abnormalities, uterine and rectal prolapse, herniae and gastrointestinal dysmotility.
Symptoms and signs
Tissue laxity results in increased flexibility, an asset to some dancers, gymnasts, musicians and athletes. However, fragile tissues are prone to overuse injury, rupture and healing is poor and often delayed.
Muscle and joint complications – joint pain, sprains, tendonitis, bursitis, recurrent dislocations, fractures, early arthritis and osteoporosis, flat feet, chronic spinal disc problems with back and neck pain, chronic pain syndrome.
Other complications – Smooth but stretchy, poor healing skin, papyraceous scarring, stretch marks, easy bruising, lax eyelids, bruising, uterine and rectal prolapse, stress incontinence, proprioceptive impairment leading to clumsiness and falls, varicose veins, fatigue.
Gastro-intestinal problems: abdominal pain, constipation, gastroparesis, reflux – can require multiple medications and even naso-gastric tube or PEG feeding.
Autonomic Disorders occur in 78% of patients and include Vasodepressor Syncope and Postural Orthostatic Tachycardia Syndrome (PoTS - increased pulse rate on standing or prolonged sitting can result in reduced blood supply to the brain and compensatory high adrenaline levels. Symptoms include fainting, dizziness, fatigue, poor concentration and memory problems, headaches, palpitations, tremor, sense of anxiety, nausea, sweats and visual problems. PoTS can produce functional impairment similar to that found in COPD and heart failure).
Joint Hypermobility Syndrome is probably an inherited (genetic) condition that is passed to an average of 50% of a patient’s children (autosomal dominant). By chance, an affected parent may pass JHS to none, some or all of their children. A single gene defect has not yet been identified-several factors may be involved.
Consequently, affected patients may become carers for affected relatives.
Joint Hypermobility Syndrome is under-diagnosed. In one survey, over 50% of patients waited over 10 years from onset of symptoms to receive a diagnosis.
Diagnosis is clinical-there are currently no blood tests or other markers available.
It is made on the basis of satisfying the Brighton Criteria.
- A Beighton score of 4/9 or greater (current or historical)
- Arthralgia for longer than 3 months in more than 4 joints
- A Beighton score of 1,2 or 3/9 (0-3 if age 50+)
- Arthralgia >3 months in 1-3 joints or back pain >3 months, spondylosis/spondylolisthesis
- Dislocation/subluxation in >1 joint, or 1 joint more than once
- Soft tissue rheumatism(eg epicondylitis, tenosynovitis, bursitis) >3 lesions
- Marfanoid habitus (tall, slim, span/height ratio>1.03, upper/lower segment ratio less than 0.89, arachnodactyly-positive Steinberg/wrist signs)
- Abnormal skin: striae, hyper-extensible, thin, papyraceous scarring
- Eye signs: drooping eyelids or myopia or antimongoloid slant
- Varicose veins or hernia or uterine/rectal prolapse
JHS diagnosed in presence of 2 major or 1major + 2 minor or 4 minor criteria
(2 minor will suffice if there is an unequivocally affected 1st degree relative)
Beighton Score (maximum score 9)
Opposition of the thumb to the volar aspect of the ipsilateral (same side) forearm (1 point for left; 1 for right)
Passive dorsiflexion of the fifth mp joint to ≥90° (1 point for left; 1 point for right)
Hyperextension of the elbow to ≥10° (1 point for left; 1 point for right)
Placing of hands flat on the floor without bending knees (1 point)
Hyperextension of the knee to ≥10° (1 point for left; 1 point for right)
It is important not to miss other conditions that manifest as hypermobile joints e.g.
- Marfans Syndrome (may be suggested by family history of early death from dissection or ruptured aortic aneurysm).
- Vasular types of Ehlers-Danlos Syndrome (can cause spontaneous rupture of artery, gut or uterus).
People with JHS often respond poorly to analgesics and local anaesthetics. With frequent and persistent painful episodes and poor pain control, they often develop widespread chronic pain with pain amplification and kinesiophobia (avoidance of movement to avoid pain). Deconditioning develops.
A multidisciplinary team approach can be helpful where available (e.g. rheumatologist, specialist nurse, physiotherapy, podiatry, occupational therapy, pain management team).
Depression is common due to chronic uncontrolled pain, difficulty with tasks of daily living, diagnostic delay and failure to recognise symptom severity.
In general, surgery and steroid injections are not recommended for hypermobile joints
Overenthusiastic physiotherapy from practitioners inexperienced with JHS may exacerbate symptoms. Treatment should focus on:
- Core and joint stabilising and proprioception enhancing exercises;
- Mobilising techniques;
- General fitness training.
- The Hypermobility Syndrome Association
- Ehlers-Danlos Support UK
- Marfan Association UK
- Syncope Trust And Reflex anoxic Seizures (STARS) (autonomic problems / syncope)
- Postural Orthostatic Tachycardia Syndrome (POTS)
Because of the wide range of clinical manifestations and spectrum of disability and needs it may often be necessary to obtain further evidence, in the form of a GP or physiotherapist report or a report by an examining medical practitioner. A rheumatologist’s report may be particularly helpful.
Care and Mobility
People with severe forms of the JHS may be in frequent or constant pain that is worsened by movements, especially those involving physical effort such as lifting. Joints may dislocate following minimal movement. When the tissues are damaged, physically demanding activities are also painful and may give rise to care needs from another person. Periods of rest throughout the day may be required after only a modest amount of physical activity.
Falls and/or faints may occur so that certain activities such as bathing, using stairs, etc may need to be supervised, particularly in elderly people with this syndrome.
Main meal preparation, especially cutting up vegetables, opening jars, lifting pans and using taps may prove to be difficult. At times assistance may be required with toileting and personal hygiene.
Workplace considerations: Chairs may need to be adapted to suit individual’s need e.g. high back, lumbar support, elevated seat. It may be necessary to adapt taps and door-handles. Repetitive use of susceptible joints should be avoided. Special transport considerations may be necessary. Advice from an occupational therapist, physiotherapist or occupational health department may be helpful.
Employees with autonomic complications may require a cool environment with the ability to take short regular breaks to eat and drink. Prolonged standing and sitting should be avoided. They may have special dietary requirements. Profound fatigue is a common problem and can impair stamina and concentration.
Mobility considerations: Because the connective tissues are lax and fragile they may be easily injured or dislocate. The combination of unstable, painful joints and balance problems may make walking difficult. People with severe forms of the syndrome require the use of walking aids (cane, crutches) or wheelchair. Patients can become bed-bound.
Prognosis and duration
Pain can result from sudden injuries to the soft tissues which take weeks or months to heal. Long delays in diagnosis means that many patients (for example 24% of patient attending their first appointment at UCH Hypermobility Clinic) have established chronic pain syndrome and requiring a multi-disciplinary team approach to management.
All information must be taken into account when considering the duration of disabling effects and the duration of disabling effects must be based on the particular circumstances of the individual claimant.
RODNEY GRAHAME CBE, MD, FRCP, FACP
Emeritus Professor of Rheumatology, University College Hospital, LONDON.
Amended October 2011