[Joint hypermobility: when to evoke Ehlers-Danlos syndrome]?

Variable with age, gender and ethnicity, joint hyperlaxity refers to an increased capacity of extension or flexion of the joints beyond normal limits. The Beighton score is used to confirm or exclude hyperlaxity. While a Beighton score under 5 should not always lead to exclude the diagnosis of Ehlers-Danlos syndrome (EDS), a positive scoring of 5 or more (generalized joint hypermobility) is usually required in adults to consider the diagnosis. Ehlers-Danlos syndromes are a group of inherited disorders of connective tissue affecting the biosynthesis and/or structure of collagens or proteoglycans. Various clinical forms have been described. The association of joint hyperlaxity with joint sprain, joint subluxation/dislocation, chronic pain and fatigue may help to distinguish between the hypermobile type of Ehlers-Danlos syndrome (formely known as Ehlers-Danlos type III) and the joint hypermobility syndrome, although both conditions are sometimes seen as a continuum. The existence of a family history is an additional criteria in favor of the diagnosis of Ehlers-Danlos syndrome, although some cases appear sporadic, likely due to incomplete penetrance and/or variable phenotypic expression. Ehlers-Danlos syndrome do not have any specific etiological treatment. The management is poorly systematized due to the absence of controlled clinical trials or good clinical practice recommendations. Patients should be seen in a department of genetics, physical medicine and rehabilitation or rheumatology to avoid the diagnostic odyssey and help preventing disease complications. Physical rehabilitation and pain management can play a valuable role.