Ehlers-Danlos Syndrome

Excerpt

Ehlers Danlos syndrome (EDS) is a group of hereditary connective tissue disorders that manifests clinically with skin hyperelasticity, hypermobility of joints, atrophic scarring, and fragility of blood vessels. It is largely diagnosed clinically, although identifying the gene encoding the collagen or proteins interacting with it is necessary to identify the type of EDS. Identifying the type of EDS to guide management and counseling is important. In 2017, a new international classification of EDS was proposed with 13 different variants. This syndrome is heterogeneous and has been classified into six types (classical, vascular, hypermobile, arthrochalasis, kyphoscoliotic, and dermatosparaxis), with the causative collagen pathology being different for each type.

Asymptomatic, nonsyndromic joint hypermobility, Ehlers-Danlos syndrome, and hypermobility spectrum disorders (particularly the hypermobile type) are the commonest phenotypes associated with joint hypermobility. Compilations of these syndromes can be chronic pain, dysautonomia, gastrointestinal dysmotility, mast cell activation, and anxiety and phobic states. Many new variants have been identified with the advancements, which tend to be more complex and clinically overlapping. Clinical recognition of EDS variants is important. For instance, it is important to know that the patient has the vascular type, which is associated with arterial rupture and organ perforation, with potentially life-threatening consequences.