Ehlers-Danlos syndrome national diagnostic service

  • The national Ehlers-Danlos syndrome diagnostic service is a specialist service for you and your family if it's suspected that you may have complex Ehlers-Danlos syndrome (EDS).

  • Telephone number: 020 8869 3166
  • Location: North West Thames Regional Genetics Centre (Kennedy Galton Centre), Level 8V, Northwick Park and St Mark's Hospitals

About the service

The national Ehlers-Danlos syndrome diagnostic service is a specialist service for you and your family if it's suspected that you may have complex Ehlers-Danlos syndrome (EDS).

We diagnose complex EDS in both adults and children, and aim to use new diagnostic techniques to provide you with an excellent service.

Conditions we care for

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. There are several rare types of EDS including:

  • classical
  • vascular
  • kyphoscoliotic
  • periodontal.

Diagnosing EDS can be difficult, which is why we provide a specialist service to identify complex Ehlers-Danlos Syndrome.

Our service focuses on diagnosing complex EDS. Sometimes, it may be more appropriate you to see your local general clinical genetics team first. They can then refer you to us if we can help answer a complex diagnostic question.

If your main concern is about managing the day-to-day aspects of EDS, it may be more useful for you to see other specialists who can help you (such as rheumatologists, physiotherapists or paediatricians).

If you are living with EDS, you may find the following organisations helpful:

Ehlers-Danlos syndrome UK Charity and Support Group (EDS-UK)

Hypermobility Syndromes Association (HMSA)

The Ehlers-Danlos Society.

Information about your care

Once our service accepts your referral, we will:

  • send you a letter
  • arrange a telephone call from a genetic counsellor to gather information before your clinic appointment and discuss your questions or concerns.

If your doctor referred you to our service six weeks ago or more and you haven't heard from us, please get in touch with our coordinator to check that we have received your referral.

At your appointment, we:

  • will discuss your medical history and family history with you
  • ask you to have a physical examination
  • may offer you a test, such as a genetic blood test or skin biopsy.

Sometimes a doctor referrs several members of a family to our service. When this happens, we normally see you all together.

After you've had your assessment:

  • if you have a rare type of EDS, you may need a specialist service to help you manage your condition
  • if you do not have a rare type of EDS, your condition can often be managed by your local team.

Referrals

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

Information for consultants

Our service is funded by NHS England for people with suspected complex EDS in England and Scotland. To get more information about services for people in Wales, Northern Ireland, the Republic of Ireland and the Channel Islands, please speak to our coordinator.

We can accept referrals for patients where:

  • diagnostic testing does not confirm diagnosis of a suspected rare type of EDS     
  • diagnostic criteria of more than one type of EDS identified 
  • there are significant additional findings aside from diagnostic criteria
  • the patient has a confirmed diagnosis of a rare type of EDS and you are requesting expert advice

Where appropriate, please include the following information in your referral:

  • 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
  • a copy of the referring clinician's most recent clinic letter 
  • a copy of pedigree (when a referral is made by a geneticist).

To make a referral, please write to the Ehlers Danlos Syndrome National Diagnostic Service (London), Level 8V, Northwick Park and St Mark's Hospitals, Watford Road, Harrow HA1 3U.

You can also contact our EDS coordinator on 0208 869 3166 or by email.

Information for GPs

Unfortunately, we cannot accept referrals from GPs.

  • To help a patient get a diagnosis, please refer them to your local regional genetics service. If it's appropriate, the geneticist can then refer your patient onto the EDS Diagnostic Service.
  • To support or treat a patient with hypermobility issues, it is often more appropriate to refer them to a rheumatologist with an interest in hypermobility, or to a paediatrician if your patient is a child or young person.

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

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