Ehlers-Danlos Syndrome and Hypermobility

The Department recognises that timely and accurate diagnosis of Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) is important in supporting people to access appropriate care and management.

The National EDS Diagnostic Service focuses on the rarer, genetically confirmed forms of EDS rather than the more common hypermobile type, where specialist genetic and multidisciplinary input is required to confirm a diagnosis. Hypermobile EDS (hEDS) and HSD are usually diagnosed in primary care or by specialists such as rheumatologists, with referral where symptoms are complex.

The Department also recognises that a lack of awareness among healthcare professionals can lead to symptoms being overlooked or misattributed to other conditions, resulting in delayed recognition and diagnosis of HSD and hEDS. Once qualified, healthcare professionals are responsible for ensuring their own clinical knowledge remains up to date, and for identifying learning needs as part of their continuing professional development. Clinical teams are expected to use the best available evidence when assessing and managing patients with complex connective tissue disorders.

The Royal College of General Practitioners has developed an EDS toolkit for general practitioners (GPs), which is now hosted by The Ehlers-Danlos Support UK. This provides GPs with guidance on recognising and managing EDS, particularly the hEDS sub-type. The toolkit covers diagnostic clues, common co-occurring conditions, and when to consider a diagnosis. It details approaches to management in primary care, indications for specialist referral, and resources for physiotherapy and midwifery.

As part of its Clinical Knowledge Summary resources, the National Institute for Health and Care Excellence has also published detailed guidance on hypermobility in children, which includes information on hypermobility syndromes and EDS.

While the Department has not made a formal, specific assessment of the impact of delays in diagnosing hEDS and HSD, we recognise that such delays can have an impact on patients’ long‑term health outcomes, including increased risk of complications, poorer quality of life, and prolonged unmanaged symptoms. Delayed diagnosis may also affect participation in education and employment, with potential implications for economic activity.