From the Research
Hypermobile Ehlers-Danlos Syndrome (hEDS) is not definitively linked to mutations in any specific collagen type. Unlike other forms of EDS that have identified genetic causes affecting specific collagen types, hEDS currently has no confirmed genetic marker. The most recent and highest quality study, published in 2021 1, confirms that the genetic basis of hEDS is still unknown. While some researchers have suggested possible associations with types I, III, and V collagen, these connections remain unproven.
Key Points
- The diagnosis of hEDS is based on clinical criteria including joint hypermobility, skin hyperextensibility, and family history rather than genetic testing.
- This distinguishes hEDS from other EDS subtypes such as classical EDS (affecting type V collagen) or vascular EDS (affecting type III collagen).
- The genetic basis for hEDS remains an active area of research, with scientists investigating various candidate genes and pathways that might contribute to the connective tissue abnormalities characteristic of this condition.
- Until definitive genetic markers are identified, hEDS remains a clinical diagnosis based on symptoms and physical findings, as supported by studies such as 2 and 3.
Clinical Implications
- The lack of a specific genetic marker for hEDS highlights the importance of clinical evaluation and diagnosis based on symptoms and physical findings.
- Management of hEDS should focus on addressing the clinical manifestations of the condition, such as joint hypermobility and skin hyperextensibility, rather than relying on genetic testing.
- Further research is needed to elucidate the genetic basis of hEDS and to develop effective treatments for this condition, as noted in studies such as 4 and 1.