Genetic testing and EDS

Asya Choudry, Helpline and Medical Liaison Manager at EDS UK

Please note: The following text cannot and should not replace advice from the patient's healthcare professional(s). Any person who experiences symptoms or feels that something may be wrong should seek individual, professional help for evaluation and/or treatment. This information is for guidance only and is not intended to provide individual medical advice.

Many EDS UK members have courageously told us their journeys to diagnosis over the years, and for some of them it took over a decade to seek the answer and receive that official EDS diagnosis. For many others as time passes and new symptoms develop, it can raise the question of ‘am I diagnosed with the correct type as one or more of my symptoms now relates to other types of EDS, in particular the rarer types?’. This can raise concerns and questions for many understandably, therefore this article hopes to address those concerns and help you towards that journey of knowing when seeking genetic testing is the correct course of action for you.

Firstly, it is important to have faith in the diagnosis you have been given. If you have seen an EDS specialist, they will be following the latest diagnostic and clinical guidelines. If your symptoms have significantly changed, or you find out previously unknown family history relating to heart conditions, aneurysms or sudden unknown deaths, then it is important to reach out to your diagnosing consultant again with this new information. If you are worried about possibly having a rare type of EDS, or have been diagnosed with hEDS but are worried you may have a rarer type, these are the options to consider:

  • Do your research- look at the rarer type of EDS you are worried about via our website. Do you fit the majority of those symptoms? Ask somebody impartial who does not know much about EDS around you, to see if you fit clearly those physical descriptions that are commonly associated with that rarer type. For example- prominent veins across legs, arms and chest visible through skin indicative of vascular EDS, or skin that stretches above the recommended norm for classical EDS. You will need to have a number of symptoms for you to be even considered for genetic testing. If you are still unsure, call me on the helpline. I will listen and do my best to help.
  • There is no genetic test for hEDS as we do not know the gene(s) responsible for causing the condition yet. Each person who sees an EDS specialist will be assessed in the same way. If the diagnosing EDS professional has any concerns that you may have a rarer type, they will refer you to have genetic testing. Only a recognised EDS specialist or another relevant diagnosing professional can make the case for genetic testing by explaining in their referral letter that suspected hypermobile EDS has been ruled out and the patient is more likely to have a rarer type. Thus, they will get access to genetic testing.
  • You cannot ask for genetic testing purely because you want to be sure. A relevant professional must agree that you need this test, even in private practice. It is not done due to the patient wanting or requesting it for peace of mind and being willing to pay. Genetic testing without a clear rationale can show changes which cannot be explained. These can understandably cause anxiety and lead to more questions, with no answers.
  • There is an NHS national diagnostic service for rare and complex types of EDS. This service is split across two regional genetic services (Northwick Park, London and Sheffield). Again, to access this service you will need to see a rheumatologist and have them rule out the likelihood of having hEDS, and have them make a case for why they think you are likely to have a rarer type. Only then will your referral be accepted by the NHS national EDS diagnostic service. They will then see you, offer genetic counselling and testing and then arrange for your appropriate management. They even have a helpline nurse available to answer management questions related to your rare type of EDS.
  • Some EDS UK members have managed to go through their GP and get referred to their local genetics centre for EDS testing. Whilst this is an option, it is important to note that they may not have a developed understanding of EDS as they are a general genetic service. They may offer a genetic test to you for the rarer types, however the waiting times can be very long awaiting a genetic result leaving you worrying that you are at risk of a serious rarer type of EDS, which may not be the case. Furthermore, after receiving your genetic test result, your local genetic centres will not be able to inform your management plan in detail due to their limited knowledge, leaving you with a diagnosis of a rarer type or a default diagnosis of hEDS, without further help to manage the condition and improve your quality of life.

I hope this article explains why it is important to follow the correct protocols in place for diagnosis. This allows for the best support for you to receive the most up to date knowledge and understanding towards developing your personalised management plan, which will continue to support you through your EDS journey and hopefully will improve your quality of life.

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