A framework for the classification of joint hypermobility and related conditions

Abstract

In the last decade, growing attention has been placed on joint hypermobility and related disorders. The new nosology for Ehlers-Danlos syndrome (EDS), the best-known and probably the most common of the disorders featuring joint hypermobility, identifies more than 20 different types of EDS, and highlights the need for a single set of criteria to substitute the previous ones for the overlapping EDS hypermobility type and joint hypermobility syndrome. Joint hypermobility is a feature commonly encountered in many other disorders, both genetic and acquired, and this finding is attracting the attention of an increasing number of medical and non-medical disciplines. In this paper, the terminology of joint hypermobility and related disorders is summarized. Different types of joint hypermobility, its secondary musculoskeletal manifestations and a simplified categorization of genetic syndromes featuring joint hypermobility are presented. The concept of a spectrum of pathogenetically related manifestations of joint hypermobility intersecting the categories of pleiotropic syndromes with joint hypermobility is introduced. A group of hypermobility spectrum disorders is proposed as diagnostic labels for patients with symptomatic joint hypermobility but not corresponding to any other syndromes with joint hypermobility.

Test-retest reliability and smallest detectable change of the Bristol Impact of Hypermobility (BIoH) questionnaire

“…The original developers of the questionnaire found similarly low proportions for positive responses to that question, with only 20% and 38% of their cohorts giving an affirmative answer (Hakim and Grahame, 2003). The questionnaire now forms a supplementary part of the diagnostic criteria for hEDS in cases where the Beighton criteria is one point below the age-related cut-off (Malfait et al, 2017). As such, further evaluation of the psychometric properties of the five-point questionnaire is warranted and could include an evaluation of sensitivity and specificity against the primary diagnostic criteria.…”

“…It was previously widely recognised that there was a lack of distinction in the clinical presentation of JHS and Ehlers-Danlos Syndrome, Hypermobility Type (EDS-HT) (Tinkle et al, 2009) and many authors considered them to be the same condition. Indeed recent revision of the classification of EDS has created a more specific diagnostic category to replace both of those terms, this being 'hypermobile EDS' (hEDS) (Malfait et al, 2017).…”

“…Where patients have symptomatic joint hypermobility but do not meet the diagnostic criteria for other syndromes, the term 'Hypermobility Spectrum Disorder' (HSD) has been adopted (Castori et al, 2017). As the research described in this paper pre-dated the new criteria the term JHS will be used.…”

The effect of Ehlers-Danlos syndromes on TMJ function and craniofacial pain

“…Several subtypes have been identified [1], including Hypermobility Spectrum Disorders (HSD); however, all are generally characterized by tissue fragility, skin hyperextensibility, and joint hypermobility [2]. Genetic testing has led to the diagnostic ability to differentiate EDS/HSD from the more than 200 other heritable connective tissue disorders.…”

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“…A thorough knowledge of gastrointestinal (GI) manifestations and their management is mandatory to avoid unnecessary morbidity and mortality. [13][14][15] An increased rate of celiac disease was identified in EDS-HT, suggestive of intestinal malabsorption, a possible factor for fatigue. 16,17 Moreover, individuals have psychiatric disorders and psychosocial impairment, 18 and a high prevalence of anxiety disorders from simple phobias to panic disorders.…”