The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagenencoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes.

The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder.

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Objective To determine whether pelvic organ prolapse (POP) and sexual dysfunction are more severe in women with benign joint hypermobility syndrome (BJHS) than in the normal population.Design Case-control study.Setting King's College Hospital NHS Foundation Trust, London, UK and University College Hospital, London, UK.Population Women diagnosed with BJHS (n = 60) at University College Hospital. Control participants (n = 60) recruited from King's College Hospital NHS Foundation Trust.Methods Objective assessment of POP was undertaken using the Pelvic Organ Prolapse Quantification System (POP-Q). Both groups were asked to complete the Prolapse quality of life (P-QOL) and pelvic organ prolapse/urinary incontinence sexual (PISQ-12) questionnaires.Main outcome measures Comparison of vaginal anatomy using POP-Q between the two groups. Comparison of P-QOL and PISQ-12 quality of life scores between the two groups.Results In all, 120 women (60 in Study group, 60 in Control group) were recruited. All women in the study group were matched with healthy control women according to age, parity and ethnicity. There was a statistically significant difference between points Aa, Ba, Ap, Bp and C in study and control groups showing that prolapse is objectively more severe in those with BJHS. Significantly more women with BJHS felt that POP interfered with sex and defecation compared with the control group. The impact of prolapse symptoms on quality of life was statistically different in almost all nine P-QOL domains.Conclusions A large number of women with BJHS have prolapse symptoms, which significantly affect their quality of life. POP is more severe in women with BJHS.