Research Review by Dr. Shawn Thistle©

Date:

Nov. 2006

Study Title:

Benign joint hypermobility syndrome: Evaluation, diagnosis, and management

Authors:

Simpson Maj. MR

Publication Information:

Journal of the American Osteopathic Association 2006; 106(9): 531-536.

Summary:

Benign joint hypermobility syndrome (BJHS) is a connective tissue disorder with general joint hypermobility in the absence of systemic inflammatory or rheumatologic disease. It is important to recognize this condition clinically, as management may need to be altered accordingly.

Perhaps more importantly, BJHS must be accurately differentially diagnosed from its related conditions, which can have severe health consequences. Joint hypermobility not associated with systemic disease is thought to occur in 4-13% of the population, with a higher prevalence in women (~5% vs. 0.6% in men). Furthermore, people of African, Asian, and Middle Eastern decent more commonly have increased joint mobility.

General Characteristics of BJHS
  • has a strong genetic component, with an autosomal dominant pattern
  • the syndrome is due to a collagen abnormality – mainly an alteration in the ratio of collagen subtypes
  • signs and symptoms are variable (see below), and may occur at any age
  • patients may be at risk for future osteoarthritis
  • assessment involves determining the Beighton score, and applying the Brighton criteria
Clinical Presentation
  • most commonly involves joint pain
  • may affect one or multiple joints
  • physical activity and repetitive use exacerbates joint pain
  • pain generally occurs later in the day (vs. early in the morning)
  • patients will often report being “double jointed” – although this alone is not sufficient for diagnosis
  • patients may bruise easily, have a history of ligament or tendon rupture, developmental dysplasia of the hip, or have TMJ dysfunction
  • less common symptoms include – joint stiffness, myalgia, muscle cramps, and nonarticular limb pain
  • signs of a general connective tissue disorder may be present – scoliosis, pes planus, genu valgum, excessive lordosis, marfanoid habitus, varicose veins, rectal or uterine prolapse, or thin skin
  • clinically significant tenderness, redness, swelling, fever, or warmth suggest inflammation and are NOT present in BJHS
Diagnosis of BJHS
  • first step is to calculate the Beighton score (see below) – a score of 4 or more positive tests is indicative of BJHS
  • the Brighton criteria are then applied (see below)
  • BJHS is a diagnosis of exclusion
Beighton Score – involves 5 tests performed on both sides (1 point per side, per test)
  1. apposition of thumb to the forearm
  2. hyperextension of the knee beyond 180°
  3. hyperextension of the elbow beyond 180°
  4. passive extension of metacarpophalangeal joint beyond 90°
  5. standing forward flexion (+ve is both hands flat on the floor)
Brighton Criteria

Major Criteria
  • Beighton score of ? 4
  • arthralgia for > 3 months in 4 or more joints
Minor Criteria
  • Beighton score of 1, 2, or 3
  • arthralgia (> 3 months) in 1-3 joints or back pain (> 3 months) or spondylosis/lysis/listhesis
  • dislocation or subluxation in more than one joint, or in one joint on more than one occasion
  • three or more soft tissue lesions (ex. tendinopathy, bursitis, tenosynovitis)
  • Marfanoid habitus (tall, slim, arm span > height, arachnodactyly etc.)
  • skin striae, hyperextensibility, thin skin, or abnormal scarring
  • ocular signs – drooping eyelids, myopia, antimongoloid slant
  • varicose veins, hernia, uterine or rectal prolapse
  • mitral valve prolapse
Requirement for Diagnosis (any ONE of the following):
  • two major criteria
  • one major plus two minor criteria
  • four minor criteria
  • two minor criteria and one unequivocally affected first degree relative in family history
Note:  “Beighton” is the correct spelling of the score, and “Brighton” is the spelling of the criteria.

Differential Diagnosis (pertinent points of difference)
  • Marfan Syndrome – Marfanoid habitus (see above), cardiac and ocular features including lens dislocation
  • Osteogenesis Imperfecta – blue sclera, excessive joint laxity, bony deformity and fractures
  • Ehlers-Danlos Syndrome – group of CT disorders – BJHS is thought to be a mild variation of EDS as they have many overlapping features
  • Juvenile Rheumatoid Arthritis – onset of arthritis before age 16, inflammation in one or more joints

Conclusions & Practical Application:

BJHS is a relatively common condition, so patients with unexplained joint pain should be evaluated for generalized joint hypermobility. One of the most important aspects of management is educating the patient about the non-progressive nature and favourable prognosis for this condition.

When acute symptoms occur, the literature recommends NSAIDs for pain (not inflammation, as this is not present in this condition), and avoidance of aggravating activities. Physical therapy and joint protection techniques may also be of benefit for acute exacerbations.

An overall conditioning program should emphasize joint stability and minimize repetitive joint stress according to patient tolerance.

Although not a contraindication to spinal manipulation, it stands to reason that patients with “loose” joints should not be over adjusted (to be very general). That being said, judicious application of spinal manipulation can play a valuable role in the management of these patients.

This article advocates osteopathic manipulative therapy (OMT) in managing BJHS, without describing exactly what that is.

As a side note, some exerts are suggesting that the term “benign” be dropped from the name of this condition to reflect the impact of BJHS on patient quality of life, and respect the potential for severe complications. In the future, more rheumatologists and primary care providers may use the term “joint hypermobility syndrome” instead.