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Ehlers Danlos Syndrome National Diagnostic Service

The national Ehlers-Danlos syndrome diagnostic service is a specialist service for individuals and families who are suspected to have complex Ehlers-Danlos syndrome (EDS). 

Please note we are unable to accept referrals from GPs or private consultants. We can only accept referrals from NHS Consultants.  

The service focuses on diagnosing complex EDS. Sometimes, it may be more appropriate for an individual to see their local general clinical genetics team in the first instance who can refer on to us if there is a complex diagnostic question. When the main issues are managing the day-to-day aspects of EDS it can be more useful to be referred to other specialists such as rheumatologists, physiotherapists or paediatricians. 

What is Ehlers-Danlos Syndrome?
EDS is a group of inherited conditions which can have features in common. These may include joint hypermobility (increased range of movement), stretchy skin and tissue fragility.

The main types of EDS include classical, hypermobile, vascular and kyphoscoliotic.  In its mildest form, symptoms can be limited to hypermobile joints but in the more severe forms it can be disabling and even life-threatening. Making the diagnosis of EDS can be difficult and for this reason a specialist service is needed for the complex Ehlers-Danlos Syndrome.

Description of service

We aim to provide an excellent diagnostic service for adults and children with suspected complex EDS and we strive to incorporate new diagnostic techniques and developments in our practice.

When a referral is accepted, we will send you a letter and arrange a telephone call from a genetic counsellor to gather information before your clinic appointment and discuss your questions or concerns. If it is 6 weeks since your doctor referred you to our service and you have not heard from us, please contact the coordinator to check we received the referral.

At the appointment you will be asked to discuss your medical history and family history with the consultant and have a physical examination. You may be offered a test such as a genetic blood test or skin biopsy. Occasionally more than one family member is referred and we would normally see the whole family together.

After your detailed assessment with us, if you are diagnosed with EDS-hypermobile type, often the condition can be managed locally.  If you have one of the rare types of EDS your condition may need to be managed in a specialist service.

When the service started it was led by Professor FM Pope, Consultant in Connective Tissue Genetics, who now contributes to our service in an advisory role.

The two branches of the Ehlers Danlos Syndrome national diagnostic service are based at Northwick Park and St Mark’s Hospitals in Harrow in North West London and at Sheffield Northern General Hospital. Both services are for adults and children.

Where are clinics held?

Adult and children's outpatient clinics are held on Level 8 of St Mark's Hospital within the North West Thames Regional Genetics Service (Kennedy Galton Centre).

Map and directions

Address

Ehlers Danlos Syndrome National Diagnostic Service, Level 8V, Northwick Park and St Mark's Hospitals, Watford Road, Harrow HA1 3UJ

Contact us

EDS Coordinator (9.30am-4.30pm)
Tel. 020 8869 3166 
Email: LNWH-tr.EDSLONDONOFFICE@nhs.net

Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist

Dr Neeti Ghali MBChB MDConsultant Clinical Geneticist

Dr Fleur S van Dijk MD PhD, Consultant Clinical Geneticist

Mrs Carole Cummings SRN SCMGenetic Counsellor

Mrs Marion Bartlett MA MSc RGCGenetic Counsellor

Mrs Ravinder Sehra BSc MSc RGC, Genetic Counsellor

Information for professionals

The Ehlers Danlos Syndrome (EDS) National Diagnostic Service is funded by NHS England for patients in England and Scotland with suspected complex EDS. For patients from Wales, Northern Ireland, Republic of Ireland and the Channel Islands, please contact the coordinator for more information about these arrangements.

How to refer 
Referrals are accepted from NHS Consultants in Secondary Care/Tertiary Care for patients in whom:         

  • Diagnostic testing does not confirm diagnosis of suspected rare type of EDS    
  • Diagnostic criteria of more than one type of EDS identified 
  • Significant additional findings aside from diagnostic criteria
  • Confirmed diagnosis of a rare type of EDS and expert advice is requested

Please include the following details with referrals where appropriate:

  • Patient contact details – including address and telephone number if available 
  • Any genetic testing details – and a copy of the report 
  • Any skin biopsy details – and a copy of the report 
  • Copy of referring clinicians most recent clinic letter 
  • Copy of pedigree when referral is made by a Geneticist. 

Referral address

Dr Fleur S van Dijk, Consultant in Clinical Genetics
Ehlers Danlos Syndrome National Diagnostic Service (London), Level 8V, Northwick Park and St Mark's Hospitals, Watford Road, Harrow HA1 3UJ

Contact us

EDS coordinator
Tel. 020 8869 3166, 9.30am - 4.30pm
email: LNWH-tr.EDSLONDONOFFICE@nhs.net

Information for GPs

We are not able to accept GP referrals. Where the primary concern is diagnosis, GPs can refer the patient to their local regional genetics service. The addresses of regional genetics services can be found on the website of the British Society for Genetic Medicine. If appropriate, the geneticist could then make an onward referral to the EDS Diagnostic Service.

Where there are management issues to be addressed, relating to the hypermobility spectrum, it is often more appropriate to refer to a rheumatologist with an interest in hypermobility, or paediatrician.

We are part of a network of clinicians across the UK interested in improving outcomes for patients with EDS, and are happy to assist patients and their doctors with recommendations for ongoing management.