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Basics ⬇

Author: AdrianTabares, MD, CAQSM

Description

  • Joint hypermobility syndrome, once viewed as a distinct clinical entity comprising of joint laxity and skin fragility, currently falls under the classification for Ehlers-Danlos syndrome hypermobility type (1).
  • It is a diagnosis of exclusion that requires the absence of other features of Ehlers-Danlos syndrome subtypes, in addition to other connective tissue disorders. Although there is still ongoing debate on how the clinical diagnosis is made, it is currently based on a combination of clinical history and physical exam findings (1,2).
  • There is no confirmatory genetic test, and the phenotype is variable.
  • Manifestations in individuals can range from asymptomatic to chronic widespread pain (2).
  • Many affected individuals pursue athletics that require a large degree of flexibility, such as yoga, dance, and gymnastics.

Epidemiology

Incidence

Actual incidence is unknown.

Prevalence

The prevalence of joint hypermobility syndrome is estimated to be between 1:5,000 and 1:15,000 (1).

Etiology and Pathophysiology

  • The pathophysiology of joint hypermobility syndrome is poorly understood because there are no observable structural abnormalities on examination of collagen fibers or other associated molecules or the genes encoding for them in the majority of patients.
  • This is in contrast to other disorders such as Ehlers-Danlos and Marfan syndrome, which can be distinguished, based on genetic markers (1).

Genetics

  • No genetic marker identified to date
  • Believed to be inherited through an autosomal dominant pattern
  • Incomplete penetrance and variable phenotype (1)

Risk-Factors

More commonly seen in childhood, adolescence, female gender, and people of Asian and West African descent (1, 2)

General Prevention

Unknown

Commonly Associated Conditions

Diagnosis ⬆ ⬇

History

The diagnosis of joint hypermobility syndrome relies on appropriate history taking and the exclusion of other types of connective tissue disorders, joint arthritides, and myopathy. A family history should be elicited to determine if genetic testing for other conditions is warranted (1,2)[B].

Physical Exam

  • The Beighton score has been developed to assess joint hypermobility and consists of a nine-point scoring system. One point is given for each positive test: (i) if the patient is able to demonstrate apposition of the thumb to the forearm, (ii) extension of the 5th finger beyond 90 degrees, (iii) extension of the elbow beyond 10 degrees, (iv) extension of the knee beyond 10 degrees,(v) and being able to place both palms flat on the floor with forward flexion of the trunk while keeping the legs straight (1,2).
  • The sum of all positive tests is then calculated with a maximum score of 9/9.
  • Major criteria for the diagnosis of hypermobility syndrome include a score of 4/9 or greater, or arthralgia for over 3 mo among four or more joints.
  • Minor criteria for hypermobility syndrome include the following:
    • A Beighton score of 1 to 3/9 (0 to 3 if age 50 yr or older)
    • Arthralgia over 3 months in one to three joints, or back pain for over 3 months
    • Dislocation/subluxation in more than one joint or on more than one occasion
    • Soft tissue rheumatism with more than three lesions
    • Marfanoid habitus (tall, thin, wingspan to height ratio >1.03, upper to lower body ratio <0.89, arachnodactyly (positive Steinberg wrist sign)
    • Abnormal skin: striae, hyperextensibility, thin skin, papyraceous scars
    • Drooping eyelids, myopia, or “antimongoloid slant”
    • Varicose veins, hernia or rectal/uterine prolapse
  • The diagnosis of joint hypermobility is made if any of the following are met: (i) two major criteria, or (ii) one major and two minor criteria, or (iii) four minor criteria, or (iv) two minor criteria and an affected first-degree relative (1,2)[B].
  • If joint hypermobility is suspected but the individual does not meet Beighton score criteria, a five-point questionnaire may be used to assess for historical joint hypermobility. This consists of the following questions:
    • Could you ever place your hands flat on the floor without bending your knees?
    • Could you ever bend your thumb to touch your forearm?
    • As a child, did you amuse your friends by contorting your body into strange shapes OR could you do the splits?
    • As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion?
    • As a child or teenager, did you consider yourself “double-jointed?”
  • A positive answer to two or more questions increases the suspicion of joint hypermobility (1)[B].

Differential Diagnosis

Diagnostic Tests & Interpretation

Initial Tests (lab, imaging)

There are no diagnostic labs or imaging to confirm joint hypermobility syndrome, and the diagnosis relies on history and physical exam findings (1).

Follow-Up Tests & Special Considerations

Additional testing may be performed to rule out other conditions or to evaluate for other pathology and may include:

  • X-ray, diagnostic ultrasound, computed tomography (CT), or magnetic resonance imaging (MRI) of involved joints.
  • Inflammatory markers, uric acid levels, autoimmune markers, evaluation for endocrine or hematologic conditions, muscle biopsy.
  • Echocardiography if Ehlers-Danlos or Marfan syndromes are suspected.
  • Bone mineral density testing for osteogenesis imperfecta (1)[C].
ALERT
In pediatric patients, a second evaluation in adult age is recommended or laboratory testing to exclude other disorders before the diagnosis is made (1)[C].

Diagnostic Procedures/Other

Arthrocentesis may be considered if joint infection or other arthritides such as gout or pseudogout are suspected.

Interpretation

Tissue pathology does not play a role in diagnosis.

Treatment ⬆ ⬇

General Measures

  • Although there are no treatment options that lead to the resolution of joint hypermobility syndrome, treatment should be individualized and focus on symptom management (2,3).
  • Physical and occupational therapy: There is limited evidence to suggest therapy can be effective in pain reduction, improved proprioception, strength, balance, and improvement of quality of life. However, joint-specific exercise has not been found to be more effective than exercise in general (3)[A].
  • Splints and orthotics may provide additional support but high-quality evidence is lacking (3)[C].
  • Pain management using a team approach, including behavioral therapy, pharmacologic and nonpharmacologic methods can provide an adjunct to overall symptom control (2)[C].

Medication

Medication has not been found to be effective for the long-term treatment of hypermobility syndrome. However, analgesics, such as acetaminophen; nonsteroidal anti-inflammatories; muscle relaxants; antidepressants, such as selective serotonin reuptake inhibitors (SSRIs) and tricyclics; and antiseizure medications, such as gabapentin, may prove helpful in reducing acute and chronic pain (2)[C].

Issues for Referral

  • A referral to a rheumatologist or clinical geneticist may be considered for additional testing if the diagnosis remains uncertain.
  • Cardiology, endocrinology, gastroenterology, neurology, ophthalmology, orthopedic surgery, and podiatry referrals may be considered for additional evaluation.
  • Psychiatry, clinical psychology, and pain management referrals may be indicated for assistance in management (1)[C].

Additional Therapies

N/A

Surgery/Other Procedures

Surgery may be recommended for recurrent joint dislocations and instability on an individualized basis.

COMPLEMENTARY & ALTERNATIVE MEDICINE

  • A number of supplements have been proposed to treat joint hypermobility syndrome including calcium, carnitine, coenzyme Q10, glucosamine, magnesium, methylsulfonylmethane, pycnogenol, silica, vitamin C, and vitamin K.
  • However, large-scale, randomized controlled trials demonstrating efficacy are lacking (4)[C].

Admission, Inpatient, and Nursing Considerations

N/A

Ongoing Care ⬆ ⬇

Follow-up Recommendations

Patient Monitoring

Follow-up is recommended at the clinicians discretion based on the specific needs of the individual.

Diet

N/A

Patient Education

  • The goal of education is to help individuals understand the nature of the condition and recommended treatment options.
  • Education may help reduce rates of joint dislocations and other associated injuries.
  • Self-help groups such as the Hypermobility Syndromes Association (HMSA) located in the United Kingdom may provide further support (2).

Prognosis

  • Joint hypermobility syndrome is a lifelong condition that in many individuals may manifest as recurrent episodes of joint pain. However, the majority of those affected are asymptomatic.
  • Some individuals experience reduction in symptoms along with reduced flexibility that occurs with age.
  • Longitudinal studies examining the progression of the condition are currently unavailable (1,2).

Complications

  • Although recurrent joint subluxation, dislocation and pes planus are commonly associated conditions, exact rates of these complications remain unknown (2).
  • Physical therapy including a strengthening protocol is thought to reduce the rates of these complications, but high-quality studies that provide measurement of these outcomes are lacking (2,3).

Additional Reading ⬆ ⬇

  • Grahame R, Bird HA, Child A. The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). J Rheumatol. 2000;27(7):1777–1779.
  • Hakim AJ, Grahame R. A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain. Int J Clin Pract. 2003;57(3):163–166.

See-Also

Connective Tissue Disorders; Ehlers-Danlos Syndrome Hypermobility Type; Joint Hypermobility Syndrome

References ⬆ ⬇

  1. Colombi M, Dordoni C, Chiarelli N, et al. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type compared to other heritable connective tissue disorders. Am J Med Genet C Semin Med Genet. 2015;169C(1):6–22.
  2. Pacey V, Tofts L, Wesley A, et al. Joint hypermobility syndrome: a review for clinicians. J Paediatr Child Health. 2015;51(4):373–380.
  3. Palmer S, Bailey S, Barker L, et al. The effectiveness of therapeutic exercise for joint hypermobility syndrome: a systematic review. Physiotherapy. 2014;100(3):220–227.
  4. Mantle D, Wilkins RM, Preedy V. A novel therapeutic strategy for Ehlers-Danlos syndrome based on nutritional supplements. Med Hypotheses. 2005;64(2):279–283.

Clinical Pearls ⬆

  • Joint hypermobility syndrome is a chronic condition and a diagnosis of exclusion that includes joint laxity and skin fragility.
  • The diagnosis is based on history and physical exam and relies on the exclusion of other connective tissue disorders such as Marfan and Ehlers-Danlos syndromes.
  • Treatment should be tailored to address symptoms and include physical therapy to improve strength, balance, proprioception, and quality of life.