Ehlers–Danlos syndrome, classical type

Abstract

Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised in Villefranche in 1997 [Beighton et al. (1998); Am J Med Genet 77:31-37].The aims set out in the Villefranche Criteria were: to enable diagnostic uniformity for clinical and research purposes, to understand the natural history of each subtype of EDS, to inform management and genetic counselling, and to identify potential areas of research. The authors recognized that the criteria would need updating, but viewed the Villefranche nosology as a good starting point. Since 1997, there have been major advances in the molecular understanding of classical EDS. Previous question marks over genetic heterogeneity have been largely surpassed by evidence that abnormalities in type V collagen are the cause. Advances in molecular testing have made it possible to identify the causative mutation in the majority of patients. This has aided the further clarification of this diagnosis. The aim of this literature review is to summarize the current knowledge and highlight areas for future research.

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

“…Also muscle hypotonia, scoliosis, pectus deformities, osteopenia, and increased bone fragility are regularly observed and these features can also present in patients with LDS and MFS. In a minority of cases, arterial complications including rupture and dissections are reported and these cases often resemble the vEDS phenotype (46,47). Gastrointestinal symptoms are mostly observed in the hypermobile type of EDS, but are occasionally present in patients with classical EDS, and include dysphagia, reflux, constipation, and diarrhea (47).…”

An update on the new classification of Ehlers‐Danlos syndrome and review of the causes of bleeding in this population

“…For those hEDS patients experience tissue fragility, recommendations similar to those with classical EDS should be considered. These include closing wounds via sutures without tension; applying stitches generously and in layers and also leaving them in place twice as long as usual; and using tape to help prevent stretching of scar, but also being careful in its removal . For management of heavy menstrual bleeding, care is usually individualized based on associated symptoms.…”

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients

“…[2][3][4][5][9][10][11] Various elements contribute to this area of uncertainty. However, intra-and interfamilial variability tells a much wider clinical presentation and significant overlap with other EDS types and heritable soft connective tissue disorders (HSCTDs).…”