Joint hypermobility syndrome, also termed nonhypermobility syndrome.
A connective tissue disorder characterized by chronic musculoskeletal pain due to joint hyperextensibility.
About 10% of the general population has some degree of joint laxity.
10-20% of individuals exhibit joint hypermobility, particularly children, adolescents, females, Asians, and West Africans.
Prevalence of joint hypermobility syndrome is estimated to be about 3%.
Generalized joint hypermobility with hyperextensibility in multiple joints, with or without chronic musculoskeletal complaints is more prevalent than the joint hypermobility syndrome.
Generalized joint hypermobility may be found in up to 20% of females.
All races and age groups are affected, although it is more prevalent in children and adolescents who tend to have greater mobility of joints.
The rates of generalized joint hypermobility in competitive athletes may be higher than 20%.
Because of its variable clinical presentations and lack of specific biomarkers there is no single pathophysiologic mechanism by which patients develop hypermobility syndrome
Only a small proportion of patients with generalized joint hypermobility develop musculoskeletal pain and fatigue.
Joint hypermobility syndrome associated with pelvic organ prolapse in 31% of cases, 58% rectal prolapse and 11% enterocele.
Patients may have symptoms ranging from benign hypermobility to extreme diseases such as Marfan syndrome or Ehlers-Danlos syndrome.
Serious signs and symptoms that accompany hypermobility are categorized as connective tissue dysplasia disorders.
The most common tissue dysplasia disorder is Ehlers-Danlos syndrome.
Prevalence rivals fibromyalgia, gout, and rheumatoid arthritis.
Likely to be under diagnosed because of highly variable clinical presentation, absence of a confirmatory test and controversy over its etiology and pathogenesis.
Diagnosis of joint hypermobility syndrome is largely clinical.
Patients have high rate of concomitant fatigue, headaches, ortostatic hypotension, anxiety abdominal and GU complaints.
Vast majority of patients do not have any identifiable genetic mutation, although pedigrees studies have shown a weak autosomal dominant inheritance pattern with variable penetrance.
In less than 10% of cases, a mutation in the gene TNXP which codes for the extracellular matrix glycoprotein Tenacin X has been identified.
The above patients have more pronounced dermatologic signs, including skin hyperextensbility, velvety skin , and easy bruisability.
Joint laxity and instability increase localized biomechanical overloading and chronic soft tissue injury, so that repetitive microtrauma may lead to altered kinematics, which, in turn, cause overload on other joints and further increased soft tissue injury manifesting as arthralgias and diffuse musculoskeletal pain.
Patients with joint hypermobility syndrome have decreased to joint momenta in the lower extremities, requiring a greater amount of force to maintain equilibrium.
Patients with a joint hypermobility syndrome tend to have decreased proprioception acuity.
Patients with joint hypermobility syndrome may be at greater risk for joint injuries particularly in the knees.
Patients with joint hypermobility syndrome have decreased muscle mass and muscle strength as a group.
Increased laxative tendons, which are on able to transmit power produced by muscles may account for decreased muscle strength and mass.
The fear of provoking pain in sustaining injuries may lead to decreased levels of physical activity leading to discontinuation of exercise and deconditioning.
Patients with joint hypermobility syndrome also have neurologic disturbances that can contribute to musculoskeletal pain.
Generalized hyperalgesia is common and believed to be a mediated by centralized sensitization.
It is suggested that chronic trauma, reduces the pain threshold.
Patients with hypermobility syndrome frequently have postural tachycardia syndrome as well as bowel and bladder dysfunction, probably due to connective tissue disorders.
Generalized joint hypermobility is relatively common, and not all patients go on to develop joint hypermobility syndrome.
Only about 3.3% of women in 0.6% of men develop chronic pain, fatigue, or other complaints and this may be considered chronic/pain fatigue syndrome.