When should I refer a patient with suspected Ehlers-Danlos Syndromes to a specialist for further evaluation?

Refer a patient with suspected Ehlers-Danlos Syndromes (EDS) to a specialist for further evaluation if any of the following are present: red flag features; diagnostic uncertainty; severe hypermobility impacting daily activities or mobility such as frequent subluxations or dislocations; symmetrical joint involvement; acute or repetitive strain soft-tissue injuries; fine motor difficulties; fatigue or hand pain with functional tasks; cardiovascular, respiratory, or ocular features suggestive of connective tissue disorders including EDS; thin, translucent skin with easy bruising indicating possible vascular fragility; family history of sudden early death from aortic aneurysm or spontaneous arterial or uterine rupture; or symptoms that do not improve with rest and cause stiffness indicative of inflammation NICE CKS.

Specialist referral is usually to a paediatric rheumatology clinic for children or an appropriate connective tissue disorder specialist in adults, depending on local pathways NICE CKS. Additionally, recent expert reviews highlight that gastrointestinal manifestations and autonomic or immune dysfunction may also be present in hypermobile EDS, suggesting that multidisciplinary specialist evaluation including gastroenterology and autonomic specialists may be warranted if such symptoms occur Aziz et al. 2025.

In summary, referral should be considered promptly when clinical features suggest systemic involvement, significant functional impairment, or diagnostic uncertainty, to enable comprehensive assessment and management by specialists experienced in connective tissue disorders NICE CKS Aziz et al. 2025.