What is it like to have Ehlers-Danlos Syndrome?

Robin Hosking

People who present with numerous symptoms with no apparent connection can be difficult to diagnose and therefore treat, especially within the typical GP appointment time. In some cases, these patients may be presenting with Ehlers-Danlos Syndrome also known as Joint Hypermobility Syndrome. It is thought to be an under-diagnosed condition due to poor recognition amongst the medical profession at large.

Ehlers-Danlos Syndrome is a hereditary connective tissue disorder which affects collagen which is abundant in the human body. Common signs and symptoms include hypermobile joints, stretchy skin, easy bruising, gastrointestinal problems, problems with the autonomic system and a history of pain, poor sleep, dislocations/subluxations (partial dislocations) and frequent visits to the GP/A&E. Many patients with the condition present with psychiatric co-morbidities such as anxiety and depression.

There are several types of Ehlers-Danlos Syndrome, some of which can be fatal such as the vascular type where dissection of vessels, arterial aneurysms and ruptures may occur spontaneously. In many cases of Ehlers-Danlos Syndrome, healing may be poor following surgery and may leave abnormal scarring. Patients require special suturing and dressing wounds requires special attention due to many patients having fragile, thin skin. Patients with Ehlers-Danlos Syndrome may find the use of local anaesthetics ineffective in minor procedures and dental work.

If you have any reason to suspect your patient has any of the symptoms, you should refer your patient to the GP who can refer them to rheumatology. The rheumatologist may then suggest a referral to one of the Ehlers-Danlos Syndrome/Joint Hypermobility Syndrome clinics. University College London Hospitals (UCH) runs a Hypermobility Clinic under the leadership of specialist rheumatologist Dr Hana Kazkaz.

If the patient is found to have Ehlers-Danlos Syndrome, a plan will be drawn up, and UCH may make internal referrals to the pain management unit at NHNN, Queen’s Square. Patients with gastrointestinal problems may benefit a referral to Dr  Natalia Zarante-Lopez, consultant GI at UCH. Furthermore, if any neurological problems are observed, such as those pertaining to the autonomic system, it may be worth looking at referring your patient to the National Hospital for Neurology and Neurosurgery (NHNN) in Queen’s Square, in particular, Dr Gordon Ingle. The Hypermobility Clinic may recommend that the GP refers to some of these services via letter. The Royal National Orthopaedic Hospital also provides diagnosis and treatment for Ehlers-Danlos Syndrome.

Current treatment for Ehlers-Danlos Syndrome in adults has no NICE guidelines, though guidelines are in place for paediatrics. Treatments typically include specialist pain management which includes a psychological and physiotherapy approach along with learning more about the condition. Local physiotherapy services may be unsuccessful at treating patients due to inexperience and poor knowledge of the condition. Physiotherapy services at UCH may be more successful on the basis they have more experience and may seek advice from the Hypermobility Clinic. Physiotherapy may be useful to stabilise and strengthen weak joints to prevent further deterioration of the musculoskeletal system.

Good communication between patient and GP is paramount with Ehlers-Danlos Syndrome. Patients are often suffering from multi-systemic problems in the clinic, and some patients may be sensitive to typical pharmacological treatments. The GP should be understanding and listen whilst taking into account the number of symptoms and severity.

Robin Hosking is EDS UK men’s coordinator and an expert patient. Follow Robin @MrRobinHosking