Ehlers–Danlos syndrome hypermobility type: a possible unifying concept for various functional somatic syndromes

Excerpt

We read with interest the paper by Carlesimo et al. [1] recently published in Rheumatology International. The authors highlighted the utility of ultrastructural study of the dermis in assessing Ehlers–Danlos syndrome hypermobility type (EDS-HT), formerly type III, and offered a rapid overview on what is the general thinking about this condition. EDS-HT, actually considered one and the same with the joint hypermobility syndrome (JHS), is a relatively common, frequently underdiagnosed heritable condition predisposing to chronic widespread musculoskeletal pain and a wide variety of articular and extra-articular features purportedly linked to constitutionally abnormal collagen. Actually, the diagnosis is clinical in essence and based on published diagnostic criteria [2, 3]. In line with the consolidated concept that the molecular basis of EDS-HT/JHS is still largely unknown except for a minority of patients mutated in TNXB and COL3A1, the authors stated that molecular screening for other variants of Ehlers–Danlos syndrome hypermobility type resulted negative. This is apparently in contrast with the notion that irregularities of collagen fibers of the type reported in this patient are more typical of the classic variant, which, in turn, is usually linked to mutations in COL5A1 and COL5A2. …