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Joint hypermobility syndrome
3/31/2012
Joint hypermobility syndrome in 2004

Rodney Grahame MD, Hypermobility Clinic, Centre for Rheumatology, University College London Hospitals, London, UK

The original concept of the joint hypermobility syndrome (JHS) as a largely trivial complaint, whereby loose hypermobile joints give rise to aches, pains, strains, dislocations, and occasionally, osteoarthritis is now obsolete and should be abandoned. The last two decades have seen a major shift in opinion, all new evidence now pointing to a multi-system heritable disorder of connective tissue (HDCT) with clinical features that overlap with those of other HDCTs such as the Marfan and Ehlers-Danlos syndromes (EDS) [ 1 ]. These features include marfanoid habitus, thin stretchy skin with impaired scar formation, a tendency to osteopenia, and an autosomal dominant pattern of inheritance [ 2 ].

The (9-point) Beighton score [ 3 ], useful as an initial screen, can no longer be considered the gold standard for recognizing hypermobility syndrome in clinical or epidemiological practice. It is an arbitrary all-or-none test that does not take into account the degree of laxity and in some individuals the score diminishes with advancing age, perhaps even reaching zero. Moreover, it samples only five sites, although studies have now shown that pauciarticular hypermobility is more common than polyarticular [ 4 , 5 ]. The revised 1998 Brighton criteria for the (Benign) Joint Hypermobility Syndrome, published in July 2000, take all of these characteristics into consideration in addition to the symptomatic aspect and the multi-systemic involvement [ 6 ].

New research has identified associated neurophysiological abnormalities resulting in chronic pain [ 7 ], joint proprioceptive impairment [ 8 , 9 ], resistance to the local anaesthetic effects of lignocaine [ 10 ], autonomic dysfunction [ 11 ], and psychological distress [ 12 ]. The latter, combined with a wide array of musculoskeletal and visceral problems may result in a serious reduction in quality of life [ 13 ]. This complex constellation of problems presents health providers with major challenges, yet rheumatologists remain largely unaware of the significance of hypermobility and its impact [ 14 ]. The clinical prevalence of the JHS phenotype, as judged by the Brighton Criteria, has recently been estimated to be as high as one in three in both males and females among unselected consecutive new adult referrals to a community hospital rheumatology service in London. In the case of non-Caucasian females the figure rises to 58% [ 15 ].