NHS Ehlers-Danlos National Diagnostic Service

EDS National Diagnostic Service

Please note: Current lead times for diagnostic genetic testing results in the NHS is approximately 12 months, in some instances results are available sooner so we advise to stay with the NHS for genetic testing.

Established in 2009

Sheffield & London

Genetic Counselling

Diagnostic Service

The EDS National Diagnostic Service is a highly specialised service commissioned by NHS England for individuals and families who are suspected to have complex Ehlers-Danlos Syndrome (EDS).

Established in 2009 the service runs two specialist clinics for patients based at Sheffield Northern General Hospital and the Northwick Park & St Mark's Hospitals in London.

The aims of the service

Correctly investigate and diagnose cases of suspected rare EDS types.
Develop guidelines and pathways of care for the different subtypes of EDS.
Provide information about EDS for patients and their carers.
Research regarding rare types of EDS.

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 EDS 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.

How to refer

Referrals are accepted from NHS Consultants in Secondary or Tertiary care for both adults and children.

The service sees patients who are suspected of having a diagnosis of classical, vascular or a rare type of EDS. The service will also see patients with a known diagnosis of classical, vascular or a rare type of EDS.
Patients with hypermobile EDS or Hypermobility Spectrum Disorder are not seen in this clinic.
The clinic does not offer management for hypermobility.

What is a genetic counsellor?

Genetic counsellors can give people information about genetic conditions and how they are also inherited, they work very closely with clinical geneticists. Clinical geneticists are qualified to diagnose genetic conditions.

The role of a genetic counsellor is to help a family to understand better the implications of a diagnosis of a genetic condition in a family. This includes helping the family to understand who else in the family might be at risk and how the condition is inherited. They may also help the family to make decisions about management of the condition.

For certain forms of EDS, there are tests available during pregnancy, and some people may wish to discuss these with their genetic counsellor. By exploring available options, families can make their own informed decisions about pregnancy and other matters.

Until they are offered it, most people have never heard of genetic counselling and so have no idea what to expect. In the EDS Service genetic counsellors work very closely with clinical geneticists who are doctors qualified to diagnose genetic conditions and also dermatologists who are qualified to diagnose skin conditions.

What are the possible benefits of genetic counselling?

Families who have had genetic counselling report that it can help them to:

Gain a better understanding of the condition in the family.
Make decisions about the condition in the family.
Talk about the condition to other people in the family who might be at risk.
Take action to better manage the family condition.
Communicate with health professionals, teachers, social workers etc. about their needs.

Different people may handle genetic information in different ways, depending on their own personal beliefs and their past experiences. Genetic counsellors can help individuals to make their own decisions in the context of their own unique medical, moral and social situation.

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The Patient Pathway

What happens when you or a family member are referred to the EDS service? There are two main groups of referrals that we get:

The most common is when no diagnosis has been made, but the referring doctor is suspicious the patient has a rare type of EDS. An example is Tina:

The second group of patients who are referred to us already knowing their diagnosis, such as Bill:

When a referral is accepted there are four main steps:

1. Our EDS coordinators will usually be in touch to let you know the referral has been accepted, gather some personal details and create your case file.

2. The next step is usually a phone call with a genetic counsellor. This is an opportunity for us to gain an understanding into the background of the referral. We also gather information about the family and medical history.

3. There is usually a few weeks between the pre clinic call and the appointment, to allow us to gather any further information, request notes from other hospitals and discuss the case with the wider team. We then meet you in clinic, usually this is face to face, but we now offer virtual appointments. The clinic appointment usually involves a detailed examination, discussion of the condition, genetics and opportunity to ask questions. If any genetic testing is suggested, this usually happens here.

4. The last step is follow up: This can involve getting results (if not known already) and often the long term management and yearly check-ins with families with a known diagnosis. For example, attending the yearly Inherited Cardiac Conditions clinic (ICC).

What happens at a Genetics Clinic appointment?

The clinic appointment will vary depending on whether we already know the diagnosis or whether we are meeting the person to hopefully make a diagnosis.

All appointments are usually 30 to 60 minutes long with a Consultant and Genetic Counsellor. It may involve one or more of the following:

Discussing your particular concerns.
Discussing your medical history.
Drawing your family tree, which can give valuable information that can help make a definite diagnosis, and identify who else may be at risk in the family.
Detailed discussion.
Information on Genetics.
Questions and Answers.

It is therefore useful to find out as much as you can from your relatives prior to your appointment, and that you bring this information with you when you come for your appointment.

If you have been referred because you or your child is suspected of having EDS, then your appointment will involve a physical examination. A consultant will examine your skin looking for scars, and determine how stretchy and soft your skin is. They will also assess your joints, and how bendy they are. The consultant may wish to take some photographs of your skin and joints, with your permission. These will form part of your medical record, and if necessary, will enable the consultant to discuss your case with colleagues in the service.

The consultant will then assess how likely it is that EDS may be present in your family. It may not be possible to determine this for certain at your first appointment. There are many types of EDS, and sometimes further tests are required before a diagnosis can be made. So it is possible that you may need to come to the Genetics Clinic more than once.

If and when a definite diagnosis is made, the Genetic Counsellor/ Consultant can then explain things in more detail, and try to help you understand the facts, in everyday language. This can take place by either appointment in clinic or by telephone or video.

Please note: Current lead times for diagnostic genetic testing results in the NHS is approximately 12 months, in some instances results are available sooner so we advise to stay with the NHS for genetic testing.

The final step of the patient pathway and usually the most important is what happens after the genetic clinic.

We always follow up with a written summary of the appointment so everyone knows the next steps. The genetic counsellor also checks in with the family to make sure the family are ok and if there is anything else we can help with. The clinics are busy and there are often questions raised after the appointment and we are here to answer them!

Follow up and support for vascular EDS

Yearly Check-ins (in person/ telephone/video).
ICC cardiology appointments and scans.
Advice on lifestyle and management.
How to talk to family/ school/ employer/ health professional about the condition.
Planned operations/ A&E advice. **
Options for pregnancy.
Emergency 'Blue Wallet Card'.
Any general questions.

** Please note the EDS service is only open weekdays

Page last reviewed: July 2023

Sheffield Clinic