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Contemporary approach to joint hypermobility and related disorders.
Curr Opin Pediatr 2017; 29(6):640-649CO

Abstract

PURPOSE OF REVIEW

Joint hypermobility is a common, although largely ignored physical sign. Joint hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering joint hypermobility and clinically related issues in children and adults.

RECENT FINDINGS

Ehlers-Danlos syndrome (EDS) is an umbrella term for various Mendelian connective tissue disorders sharing joint hypermobility, skin hyperextensibility, and tissue fragility. Hypermobile EDS is the default diagnosis in many individuals and still lacks of any confirmatory test. There is also a continuous spectrum of phenotypes between asymptomatic, nonsyndromic joint hypermobility, and hypermobile EDS. In 2017, a new international classification of EDSs, joint hypermobility, and related disorders was published. EDSs are now classified in 13 different variants because of mutations in 19 genes. The gap between joint hypermobility and hypermobile EDS is filled by the descriptive diagnosis of 'hypermobility spectrum disorders'. Alongside the new criteria recommendations for the assessment and management of selected issues related to joint hypermobility such as fatigue and physical therapy have also been published by expert panels.

SUMMARY

Asymptomatic, nonsyndromic joint hypermobility, hypermobility spectrum disorders and EDS (particularly, the hypermobile type) are the most common phenotypes in children and adults with joint hypermobility. Their prompt recognition is crucial to the appropriate application of evidence-based management and the reduction in burden of ill health.

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    Authors+Show Affiliations

    Castori M
    aDivision of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy bHypermobility Unit, The Hospital of St John and St Elizabeth, London, UK.
    Hakim A
    No affiliation info available

    MeSH

    Diagnosis, DifferentialEhlers-Danlos SyndromeHumansJoint InstabilityPhenotype

    Pub Type(s)

    Journal Article
    Review

    Language

    eng

    PubMed ID

    28906340

    Citation

    Castori, Marco, and Alan Hakim. "Contemporary Approach to Joint Hypermobility and Related Disorders." Current Opinion in Pediatrics, vol. 29, no. 6, 2017, pp. 640-649.
    Castori M, Hakim A. Contemporary approach to joint hypermobility and related disorders. Curr Opin Pediatr. 2017;29(6):640-649.
    Castori, M., & Hakim, A. (2017). Contemporary approach to joint hypermobility and related disorders. Current Opinion in Pediatrics, 29(6), pp. 640-649. doi:10.1097/MOP.0000000000000541.
    Castori M, Hakim A. Contemporary Approach to Joint Hypermobility and Related Disorders. Curr Opin Pediatr. 2017;29(6):640-649. PubMed PMID: 28906340.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Contemporary approach to joint hypermobility and related disorders. AU - Castori,Marco, AU - Hakim,Alan, PY - 2017/9/15/pubmed PY - 2018/5/10/medline PY - 2017/9/15/entrez SP - 640 EP - 649 JF - Current opinion in pediatrics JO - Curr. Opin. Pediatr. VL - 29 IS - 6 N2 - PURPOSE OF REVIEW: Joint hypermobility is a common, although largely ignored physical sign. Joint hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering joint hypermobility and clinically related issues in children and adults. RECENT FINDINGS: Ehlers-Danlos syndrome (EDS) is an umbrella term for various Mendelian connective tissue disorders sharing joint hypermobility, skin hyperextensibility, and tissue fragility. Hypermobile EDS is the default diagnosis in many individuals and still lacks of any confirmatory test. There is also a continuous spectrum of phenotypes between asymptomatic, nonsyndromic joint hypermobility, and hypermobile EDS. In 2017, a new international classification of EDSs, joint hypermobility, and related disorders was published. EDSs are now classified in 13 different variants because of mutations in 19 genes. The gap between joint hypermobility and hypermobile EDS is filled by the descriptive diagnosis of 'hypermobility spectrum disorders'. Alongside the new criteria recommendations for the assessment and management of selected issues related to joint hypermobility such as fatigue and physical therapy have also been published by expert panels. SUMMARY: Asymptomatic, nonsyndromic joint hypermobility, hypermobility spectrum disorders and EDS (particularly, the hypermobile type) are the most common phenotypes in children and adults with joint hypermobility. Their prompt recognition is crucial to the appropriate application of evidence-based management and the reduction in burden of ill health. SN - 1531-698X UR - https://www.unboundmedicine.com/medline/citation/28906340/Contemporary_approach_to_joint_hypermobility_and_related_disorders_ L2 - http://dx.doi.org/10.1097/MOP.0000000000000541 DB - PRIME DP - Unbound Medicine ER -

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