Joint hypermobility syndrome
- Rodney Grahame, MD, FRCP, FACP
Rodney Grahame, MD, FRCP, FACP
- Honorary Professor
- University College London
- Affiliate Professor
- University of Washington
- Alan J Hakim, BA MB BChir
Alan J Hakim, BA MB BChir
- Honorary Senior Lecturer
- St Bartholomews and The London School of Medicine and Dentistry
- Queen Mary, University of London
The joint hypermobility syndrome (JHS) is the most common disorder among the hereditary disorders of connective tissue (HDCT), a group of conditions that include JHS, Ehlers-Danlos syndrome (EDS), Marfan syndrome, osteogenesis imperfecta, and Stickler syndrome. Joint hypermobility (JHM) may be of no medical consequence and might even confer advantages for dancers, musicians, and athletes; however, it may also be associated with a number of comorbidities that constitute the cardinal features of the HDCT.
JHS is considered by many experts to be indistinguishable from, if not identical to, the most common variant of Ehlers-Danlos syndrome (EDS), EDS-hypermobility type (EDS-HM). (See 'Epidemiology' below.)
JHS is reviewed here. Overviews of the clinical manifestations, diagnosis, and management of the Ehlers-Danlos syndromes; the clinical manifestations and treatment of the Marfan syndrome; osteogenesis imperfecta; and the Stickler syndrome are presented separately. (See "Clinical manifestations and diagnosis of Ehlers-Danlos syndromes" and "Overview of the management of Ehlers-Danlos syndromes" and "Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders" and "Osteogenesis imperfecta: Clinical features and diagnosis" and "Osteogenesis imperfecta: Management and prognosis" and "Syndromes with craniofacial abnormalities", section on 'Stickler and Marshall syndromes'.)
Joint hypermobility syndrome (JHS) is very common in musculoskeletal disease clinics, but the diagnosis is often missed, and the actual prevalence of JHS is not known [1,2]. In one large survey in the United Kingdom, the combination of joint hypermobility (JHM) and chronic widespread pain, which is typical of many patients with JHS, was found in 3 percent of a general population . There has been a lack of general population studies or other studies of sufficient sample size to accurately estimate the prevalence of JHS .
JHS is considered by many experts in rheumatology and in clinical genetics to be indistinguishable from, if not identical to, the most common variant of Ehlers-Danlos syndrome (EDS), EDS-hypermobility type (EDS-HM), but the precise relationship between EDS-HM and JHS remains uncertain [5,6]. (See "Clinical manifestations and diagnosis of Ehlers-Danlos syndromes".)To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
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- HMSA - The Hypermobility Syndromes Association. http://www.hypermobility.org (Accessed on February 25, 2014).
- EDNF - The Ehlers-Danlos National Foundation. http://www.ednf.org/ (Accessed on March 08, 2014).
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- NATURAL HISTORY
- CLINICAL MANIFESTATIONS
- Beighton score for joint hypermobility
- Brighton criteria for JHS diagnosis
- DIFFERENTIAL DIAGNOSIS
- Marfan syndrome
- Ehlers-Danlos syndrome
- SUPPLEMENTAL AND POSTDIAGNOSTIC EVALUATION
- Patient education and self-management
- Musculoskeletal manifestations and pain
- Referral for associated manifestations
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS