Vascular EDS gene testing in UK

[bombsh3ll]

Hello,

I have a diagnosis of hypermobile EDS made clinically with no genetic testing, however two of my family members have features suggestive of vascular EDS (early prominent varicose veins, gingival recession, translucent skin, aortic aneurism (asymptomatic), easy large bruising and sparse thinning hair).

I do not particularly have vEDS features myself and nobody in my family has had blood vessel or hollow organ rupture. However I would like to have genetic testing to exclude vascular EDS as I am aware there is some crossover in phenotypic features.

Anyone know anywhere I can get this genetic test? I attended the NHS genetics clinic to be diagnosed with hEDS but was not offered any genetic testing as there is no test for hypermobility type. I am prepared to pay for the test if necessary.

thanks

[Jay66]

There is a network of NHS genetic testing centres across the UK. Details here: geneticalliance.org.uk/info...

and there are specific EDS ones in Sheffield and London. They require referral by your gp initially.

You can also go private - there are most of those available listed here: ehlers-danlos.com/medical-p...

[cyberbarn]

They are very strict about referral to Sheffield for testing. Have a look here and see if you meet it: england.nhs.uk/wp-content/u...

[Jojo91]

Hello - I have been wondering the same thing. I meet criteria for hEDS, but not vascular, however my father died from a cerebral aneurysm and my sister (also deceased, but not EDS-related) had a ruptured bowel, so wondering whether I should be tested for vascular. They did not have EDS diagnoses as this was in the 1960's. Then also wondering what the benefits of a diagnosis might be. Is it ok to ask why you are thinking of being tested - are there any protective measures you can take if you know?

Good luck and best wishes

[AliPixie in reply to Jojo91]

I was in a similar situation and when I was offered the genetic testing went for it, as every sample they get helps them build a better collection of data to help understand EDS. I also decided to go for it as it could show that other family members could be affected, and as I had some family history of aneurysms and strokes I was offered the test on the NHS, which thankfully came back as negative for the vascular type

[AliPixie]

If a family member with the vEDS symptoms went to their GP then they could be referred for testing and you wouldn’t need to pay privately for it

[wishywashy]

I was referred to Sheffield and expected to be offered the test due to family background, however they decided not to! I was rather shocked when I requested my medical records and found that they sent a letter to my GP stating that I tested negative for VEDS! The cardio vascular unit at Sheffield was fantastic re my POTS. I didnt know I had it until then(I was always told it was panic attacks.) So well worth the long trip for that.