Joint hypermobility: emerging disease or illness behaviour?

Abstract

-Joint hypermobility syndrome is a common clinical entity which is much misunderstood, overlooked, misdiagnosed and mistreated. It was first described in the 1960s as a purely musculoskeletal condition due to joint laxity and hypermobility occurring in otherwise healthy individuals. Some four decades later it is now perceived to be a multi-systemic heritable disorder of connective tissue with manifestations occurring far beyond the confines of the locomotor system and with ramifications potentially affecting most, if not all, of the bodily systems in one way or another. Most authorities in the field find it clinically indistinguishable from the Ehlers-Danlos syndromehypermobility type (formerly, EDS type III). In >50% of patients the diagnosis is delayed for Ն10 years. Failure to diagnose and treat the condition correctly results in needless pain and suffering and in many patients to a progressive decline in their quality of life and in some to a loss of independence. KEY WORDS: Joint hypermobility syndrome, Ehlers-Danlos s yndrome -hypermobility type, heritable disorders of connective tissue IntroductionThere is a common tendency in medicine when faced with medically unexplained symptoms to assume that they are psycho genic in origin. This is a high-risk approach that can have disastrous consequences. The joint hypermobility syndrome (JHS) story is a good illustration of this. This is the story of two diseases which, by coincidence, were first both described within a year or two of one another on opposite sides of the river Thames in London. In both conditions, joint hypermobility was identified as a prominent feature. The hypermobility syndrome (HMS) was described by Julian Kirk, Barbara Ansell and Eric Bywaters, rheumatologists at the Hammersmith Hospital in 1967; 1 the Ehlers-Danlos syndrome type III (EDS III) was described the following year by Peter Beighton, a clinical geneticist, working a few miles away at St Thomas' Hospital. Beighton had been a former fellow of the late Victor McKusick, the founder of modern medical genetics at Johns Hopkins Hospital in Baltimore. 2 He later gave his name to a nine-point scoring system for joint hypermobility, which became universally adopted (by both rheumatologists and geneticists) as a screening test for hypermobility. HMS was regarded (by rheumatologists) as a purely rheumatological disorder in otherwise healthy individuals who happened to be at the upper end of a spectrum of normal joint mobility. EDS III was regarded (by clinical geneticists) as a multisystem heritable disorder of connective tissue (HDCT), with clinical Joint hypermobility: emerging disease or illness behaviour?

A humanisation approach for the management of Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT)

“…Joint Hypermobility Syndrome is considered to be synonymous with EDS-hypermobility type (Grahame, 2013; Tinkle et al, 2009). An updated classification of the diagnostic criteria for the various Ehlers-Danlos syndromes has been published (Malfait et al, 2017), which includes hypermobile Ehlers-Danlos syndrome.…”

Ehlers–Danlos Syndrome—Hypermobility Type: A Much Neglected Multisystemic Disorder

“…Although EDS-HT is the most common type and the least severe type of EDS, it tends to be underdiagnosed and mistreated, sometimes leading to severe disability that may have been preventable if diagnosed and treated properly 64,81,82. A survey among physiotherapists in the UK found that only 32% of respondents received formal training in EDS-HT management 83.…”

Ehlers–Danlos Syndrome and Hypermobility Syndrome Compared with Other Common Chronic Pain Diagnoses—A Study from the Swedish Quality Registry for Pain Rehabilitation

“…EDS hypermobility type, the most common sub-type, has similar symptoms and diagnostic criteria as HMS, so clinically discriminating between them can be challenging [9]. Before 2017, the Villefranche nosology was a common tool for diagnosis of 6 different forms of EDS [11] as well as the Brighton criteria for HMS [12]. An overview of the changes is available in Supplementary Material (Tables S1 and S2).…”