Ehlers-Danlos Syndrome and Connective Tissue Disorders
Summary
Ehlers-Danlos syndromes (EDS) comprise a group of heritable disorders characterised by defects in connective tissue integrity, most often due to variants affecting collagen synthesis, processing or fibrillogenesis. Clinically, EDS manifests as skin hyperextensibility, joint hypermobility and tissue fragility, with subtypes ranging from classical and hypermobile forms to the life-threatening vascular type. At the molecular level, mutations in genes encoding fibrillar collagens (such as COL5A1, COL5A2 and COL3A1) or enzymes involved in post-translational modification (for example PLOD1) disrupt extracellular matrix architecture. Emerging evidence also links aberrant complement protease activity to collagen degradation in periodontal EDS. Beyond musculoskeletal features, multisystem involvement may include cardiovascular complications, gastrointestinal dysmotility and neuropsychiatric comorbidities. Diagnosis relies on clinical criteria supported by genetic testing and biochemical assays, while management is largely symptomatic and preventive, encompassing physiotherapy, vascular surveillance and multidisciplinary care. Despite advances in understanding pathogenesis, EDS remains under-recognised, and patients frequently endure diagnostic delays. Ongoing research seeks to refine molecular classification, identify biomarkers of disease severity and develop targeted therapies that stabilise connective tissue homeostasis.
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Ehlers-Danlos Syndrome and Connective Tissue Disorders publication trend
The graph below shows the total number of articles in ehlers-danlos syndrome and connective tissue disorders across all publications each year (not limited to Nature Index journals).
Technical terms
Collagen: Structural protein forming fibrils that provide tensile strength to connective tissues.
Extracellular matrix (ECM): Complex network of proteins and polysaccharides that surrounds cells and determines tissue architecture.
Hypermobile EDS (hEDS): Subtype characterised by generalized joint hypermobility without a defined molecular marker.
Haploinsufficiency: Condition in which a single functional gene copy does not produce enough protein for normal function.
Complement cascade: Sequential activation of serum proteases that mediate immune responses and, in some EDS forms, aberrantly degrade collagen.
References
- Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome. Frontiers in Immunology (2023).
- Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison. BMJ Open (2019).
- The Beighton Score as a measure of generalised joint hypermobility. Rheumatology International (2021).
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