Hypermobile Ehlers Danlos Syndrome Healthcare Usage and Outcomes in England

Ehlers Danlos (EDS) describes a range of connective tissue disorders characterised by joint hypermobility and hyperextensible skin. Thirteen of the fourteen sub-types have been attributed to molecular causes associated with alterations in 20 genes, most of which encode fibrillar collagen proteins (types I, III and V). Hypermobile EDS or hEDS is the most common EDS sub-type and the only sub-type to have a currently unknown genetic basis. Diagnosis is made with a clinical graded criteria scale, the presence of complications and family history.

Complications of hEDS affect multiple body systems. Neurological complications include cerebrospinal fluid leak when associated with Chiari malformation Type I, and spinal hypermobility (associated with ligament laxity) which has been described as atlanto-axial instability (AAI) or cranio-cervical instability (CCI). hEDS patients undergo cervical stabilisation surgery for spinal hypermobility in other countries, the role of this procedure has been questioned. The clinical and radiological biomarkers of spinal instability are suggested in the literature but are highly controversial and generally not accepted by the UK neurosurgical community. Fixation for cervical spine injuries, rheumatoid arthritis, gross infection, and discogenic disease, where patients also have EDS, is not in contention. What is debated is the role of fixation for hEDS patients for excess mobility of their cervical spine alone, without other pathological features.

Many patients are in fact going abroad for surgical spinal stabilisation and a recent survey of these patients suggested significant benefit from fixation, albeit with a high complication and multiple surgery rate. The recognised treatment for spinal instability would ideally include an integrated pathway of rehabilitation and pain management, (perhaps under the care of rheumatology services) before considering any form of surgery. Currently, there appears to be no coordinated system of care for these patients in the UK nor for UK hEDS patients travelling abroad for surgery. Local rheumatologists state there are nationally commissioned services, whilst the national providers state that they are a diagnostic service for all types of EDS other than the hypermobile type and subsequent treatment should be provided locally. Some pain management services do treat EDS patients, but availability varies by region.

Ultimately, there is very little published data available to demonstrate the services available, the size of this group of patients or their service usage and need. The adequacy of the data available in national databases is also not yet clear.

Given the significant obscurity regarding the clinical prevalence and needs of this patient subgroup as well as the recognised phenomenon of patients travelling abroad for their treatments, it is necessary to investigate these patients and understand their condition further in the UK. This includes detailing the use of resources to better understand the available facilities for this patient group and to help understand the reasons for travel.