To confirm a diagnosis of Ehlers-Danlos Syndromes (EDS), a combination of clinical assessment and targeted investigations is recommended. Initial diagnosis relies heavily on detailed clinical evaluation of characteristic features such as skin hyperextensibility, joint hypermobility, and tissue fragility. However, to confirm the diagnosis and subtype, genetic testing is the cornerstone investigation, identifying pathogenic variants in genes known to cause different EDS types.
Additionally, skin biopsy with electron microscopy and biochemical analysis of collagen may be used in certain cases to assess collagen structure and function, especially when genetic testing is inconclusive or unavailable. These investigations help differentiate EDS from other connective tissue disorders.
Recent literature emphasizes the importance of a multidisciplinary approach, combining clinical criteria with molecular genetic testing to improve diagnostic accuracy and guide management Doolan et al. 2023. UK clinical guidelines align with this approach, recommending genetic confirmation where possible to establish the specific EDS subtype, which is critical for prognosis and tailored care NICE CKS.
Key References
- CKS - Common musculoskeletal presentations in children
- NG123 - Urinary incontinence and pelvic organ prolapse in women: management
- CKS - Bronchiectasis
- CKS - Hypercalcaemia
- NG206 - Myalgic encephalomyelitis (or encephalopathy)/chronic fatigue syndrome: diagnosis and management
- NG95 - Lyme disease
- CG71 - Familial hypercholesterolaemia: identification and management
- (Doolan et al., 2023): Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review.