Rheumatology clinic – hypermobility

Case

A 35-year-old lady presented with a 10-year history of multiple joint pain. She had had several episodes of right shoulder dislocation, which initially occurred while doing a tennis serve. She also experienced multiple joint and soft tissue pain in most of her peripheral joints while performing daily activities, but no morning stiffness or swelling in any of the joints. She was treated for irritable bowel syndrome by a gastroenterologist as she had symptoms of repeated loose motions, abdominal pain and bloating sensation. She had no history of fractures and no other comorbidities.

Both her mother and brother had a diagnosis of hypermobile Ehlers-Danlos syndrome. Physical examination revealed hypermobile joints with a Beighton score of 6/9, as evidenced by ability to oppose the thumbs to the volar aspect of the forearm and passive dorsiflexion of the fifth metacarpophalangeal joint to ≥90°. She had bilateral hyperextension of the knees, ankle valgus, and pes planus deformities in lower limb. She had marked laxity of both patellae and range of motion was well preserved and painless. She had anterior instability in both shoulders. Full blood count, ESR, CRP, bone, liver and renal profile, rheumatoid factor and ANA were normal. A diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS) was made. 

The problem

Joint hypermobility is a term to describe the capability of joints to move beyond normal limits. Joint hypermobility is a descriptor rather than a diagnosis. It can be symptomless apart from the unusual mobility or individuals can present with it associated with other symptoms. Individuals with symptomatic joint hypermobility can be considered for a diagnosis of a well-defined syndrome with joint hypermobility, such as hEDS (providing new diagnostic criteria are met).

However, for individuals with symptomatic joint hypermobility but not satisfying the criteria for a syndrome or disease, the term hypermobility spectrum disorders (HSDs) has been proposed.¹

In the case presented above the patient had generalised joint hypermobility with a Beighton score of 6/9, widespread chronic musculoskeletal pain and recurrent joint dislocations. She had a strong family history of hEDS and other autoimmune rheumatologic conditions were excluded. All three required criteria for the diagnosis of hEDS were present.¹

Features

There are a series of symptoms that can result from hypermobility.

Patients with joint hypermobility suffer with recurrent subluxations (incomplete dislocation), dislocation, and connected soft tissue damage (ligaments, tendons, muscles). The most commonly affected joints include shoulders, patellofemoral joints, and ankles. As a result of repeated joint and soft tissue trauma, patients can develop musculoskeletal pain that can progress into chronic, generalised widespread body pain. Patients with joint hypermobility have reduced proprioception in selected joints² and muscle weakness.³ Other minor musculoskeletal physical features, which may be the result of the interactions between ‘softer’ musculoskeletal tissues and mechanical forces during growth, include flat feet, mild-to-moderate scoliosis, kyphosis of the upper spine and lordosis of the lower spine.

The other common symptom of joint hypermobility is chronic fatigue. The exact cause is unclear, but may be secondary to muscle weakness⁴ and sleep disturbance linked to nocturnal musculoskeletal pain.

Skin manifestations, such as unusually soft or velvety skin and mild skin hyperextensibility, are characteristic for hEDS. Atrophic scarring involving at least two sites and without the formation of truly papyraceous or hemosideric scars are seen in classical EDS.

Psychological, autonomic cardiovascular and bowel disturbances have strong association with symptomatic joint hypermobility and might impact seriously on the quality of life and management of affected individuals.

Anxiety, depression, phobias and panic attacks are hypothesised to be due to the fear and anxiety associated with potential re-injury.⁵

Autonomic cardiovascular dysfunction usually manifests with postural tachycardia syndrome.⁶ It presents with symptoms of palpitations, dizziness or syncope on standing, headaches, impaired concentration, irritability, forgetfulness and heat intolerance. Mitral valve prolapse can be a feature of hEDS.

Gastrointestinal and genitourinary manifestations of connective tissue laxity include the presence of hernias, including hiatus hernia with gastro-oesophageal reflux, bowel symptoms suggestive of irritable bowel syndrome and pelvic floor weakness with bladder dysfunction.⁷

Diagnosis

Joint hypermobility is assessed by the Beighton score, which includes five manoeuvres to calculate a score between 0 and 9. A score of 4 or more points represents generalised hypermobility. The specific manoeuvres include:

1. Apposition of the thumb to the flexor aspect of the forearm (one point for each side)
2. Passive dorsiflexion of the fifth metacarpophalangeal joint to at least 90 degrees (one point for each side)
3. Passive hyperextension of the elbow to at least 10 degrees (one point for each side)
4. Passive hyperextension of the knee to at least 10 degrees (one point for each side)
5. Flexion of the spine with placement of the palms flat on the floor without bending the knees (one point)

It is well known that range of motion decreases with advancing age, so in older patients the Beighton score may be lower.

Management

Patients with joint hypermobility, either due to hEDS or as part of joint hypermobility spectrum disorders, should be offered a holistic approach to management with an individualised treatment plan, based upon the patient’s symptoms and clinical findings.

1. All patients should receive education regarding the nature of the condition.
2. Patients with musculoskeletal manifestations and chronic pain should be referred to physiotherapy and occupational therapy. Specialists from these fields provide patients with exercises aiming to improve joint stability and strength, avoid injury, and help overcome physical concerns.⁸ Orthotics and splints can be used to improve joint alignment and provide joint stability.
3. The treatment of chronic widespread pain should be individualised in patients with joint hypermobility. Pharmacologic treatments may include simple analgesics because there is no strong evidence available to support the use of opioids for the treatment of chronic pain secondary to hypermobility. Patients may benefit from attending a multidisciplinary pain management programme.
4. Patients with mood disorders, such as anxiety and depression, which may be associated with chronic pain, should be evaluated and managed by psychologists. This should be provided either in an outpatient setting or incorporated into a multidisciplinary pain management programme.
5. Autonomic dysfunction symptoms will require input from a cardiologist, gastroenterologist or urogynaecologist with specialist interest in autonomic dysfunction.

Dr Nataliya Gak is a specialist registrar in rheumatology and Dr Roger Wolman is a consultant in rheumatology and sport and exercise medicine at the Royal National Orthopaedic Hospital.

References

1. Castori M., Tinkle B., Levi H., Grahame R., et al. A framework for the classification of joint hypermobility and related conditions. Am J Med Genet Part C Semin Med Genet 2017 175C:148-157.
2. Smith, T.O., Jerman, E., Easton, V. et al. Do people with benign joint hypermobility syndrome (BJHS) have reduced joint proprioception? A systematic review and meta-analysis Rheumatol Int 2013 33: 2709.
3. Rombaut, L., Malfait, F., De Wandele, I. et al. Muscle–tendon tissue properties in the hypermobility type of Ehlers-Danlos syndrome. Arthritis Care Res, 2012, 64: 766–772.
4. Voermans NC, Knoop H, van de Kamp N, Hamel BC, Bleijenberg G, van Engelen BG. Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome. Semin Arthritis Rheum. 2010 Dec;40(3):267-74.
5. Scheper MC, de Vries JE, Verbunt J, Engelbert RH. Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge. J Pain Res. 2015 Aug 20;8:591-601.
6. Grahame R, Edwards JC, Pitcher D, Gabell A, Harvey W. A clinical and echocardiographic study of patients with the hypermobility syndrome. Ann Rheum Dis. 1981 Dec;40(6):541-6.
7. Zarate N, Farmer AD, Grahame R, Mohammed SD, Knowles CH, Scott SM, Aziz Q. Unexplained gastrointestinal symptoms and joint hypermobility: is connective tissue the missing link? Neurogastroenterol Motil. 2010 Mar;22(3):252-e78.
8. Castori M, Morlino S, Celletti C, Celli M, Morrone A, Colombi M, Camerota F, Grammatico P.. Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome,hypermobility type): Principles and proposal for a multidisciplinary approach. Am J Med Genet. 2012 Part A 158A:2055–2070.