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The differential diagnosis of children with joint hypermobility: a review of the literature

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The differential diagnosis of children with joint hypermobility: a review of

the literature

http://www.ped-rheum.com/content/7/1/1

Louise J Tofts , J Elliott , Craig Munns , Verity Pacey and

O Sillence

Pediatric Rheumatology 2009, 7:1doi:10.1186/1546-0096-7-1

Published:5 January 2009

Abstract (provisional)

Background

In this study we aimed to identify and review publications relating to the

diagnosis of joint hypermobility and instability and develop an evidence

based approach to the diagnosis of children presenting with joint

hypermobility and related symptoms.

Methods

We searched Medline for papers with an emphasis on the diagnosis of joint

hypermobility, including Heritable Disorders of Connective Tissue (HDCT).

Results

3330 papers were identified: 1534 pertained to instability of a particular

joint; 1666 related to the diagnosis of Ehlers Danlos syndromes and 330

related to joint hypermobility. There are inconsistencies in the literature

on joint hypermobility and how it relates to and overlaps with milder forms

of HDCT.

There is no reliable method of differentiating between Joint Hypermobility

Syndrome, familial articular hypermobility and Ehlers-Danlos syndrome

(hypermobile type), suggesting these three disorders may be different

manifestations of the same spectrum of disorders. We describe our approach

to children presenting with joint hypermobility and the published evidence

and expert opinion on which this is based.

Conclusions

There is value in identifying both the underlying genetic cause of joint

hypermobility in an individual child and those hypermobile children who have

symptoms such as pain and fatigue and might benefit from multidisciplinary

rehabilitation management. Every effort should be made to diagnose the

underlying disorder responsible for joint hypermobility which may only

become apparent over time.

We recommend that the term " Joint Hypermobility Syndrome " is used for

children with symptomatic joint hypermobility resulting from any underlying

HDCT and that these children are best described using both the term Joint

Hypermobility Syndrome and their HDCT diagnosis.

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