Trouble with getting initial diagnosis - Ehlers-Danlos Sup...

Ehlers-Danlos Support UK

2,553 members833 posts

Trouble with getting initial diagnosis


Well this is my first post so if I am going on I apologise!

I have been diagnosed with hypermobility when I was 48! I thought it was normal for me that I could all these party tricks that it came as a bit of a surprise. Since then I have been looking into the associated conditions and came across EDS and slowly realised that conditions that I have had throughout my life could be due to a form of EDS/hypermobility syndrome/connective tissue disorder. I have suffered from problems during pregnancy and trauma during labour (they couldn't sew me up inside or out...blood transfusions) ( connective tissue disorder? ) I have had unexplained chest pain for nearly 10 years which, after many trips in an ambulance to A+E to be told it was muscular, eventually resulted in an emergency admission to hospital for more tests and again told it was muscular. I was then referred to a Cardiologist and he said it was Pericarditis but couldn't be sure. (floppy valve?) I have had Gastro intestinal problems with reflux and oesophageal spasms with tubes down my throat to find out what's going on (floppy valve?)

In addition to all that I have on going musculoskeletal problems eg lower back problems, osteoarthritis in my neck, foot surgery to fix my bones that were splaying out plus all over body aches and pains

Everything has been looked at in isolation and no one is looking at it as a condition with all these factors

My GP has referred me to a rheumatologist but they aren't knowledgeable about EDS but are about the hypermobility side of things. Is this rheumatologist worth seeing about hypermobility when what I need is a diagnosis/investigation for EDS?

The other problem is that my GP won't refer to a geneticist until I have seen the rheumatologist and because of the Covid situation my appointment has been postponed to July! Even the private specialists are not seeing patients till July/September!

So as you can probably see I am going round in circles and getting nowhere fast

I see that a few say 'is it all in my head'? which is exactly how I feel. Am I onto something here?! Some honest feedback would be appreciated.

Does anyone know how to or have any advice on how to get the initial diagnosis?

And thank you for listening!

3 Replies

You are right that many rheumatologists only concentrate on the joint hypermobility when EDS is so much more than that.

For a diagnoses your GP could actually do t themselves using the RCGP toolkit:

If you give them the link, after looking though it all yourself, you could work though it together and it will give you a good working diagnosis.

The problem is there is no consultant that covers all issues caused by EDS, you need a generalist, and GPs are generalists. So if you can get your GP onside, this will help a lot. Then you can have referrals to the right consultants for the right things at specific times.

I hope that helps a little.

Hi there thanks a lot for your reply. I have had a look at that tool and will certainly have another shot with the GP and go from there. It’s a long fight that we have to get a diagnosis and it’s great that we can chat on this forum for help and advice from others who are going through the same things.Many thanks

Hi! I was diagnosed with hEDS myself last November at the age of 47. Although a GP could diagnose Ehlers Danlos Syndrome, most general practitioners won’t because their are so many variables (13 different types) and other conditions that are similar to eds. I first tried getting my Dx from my GP and that was what she told me.

She then referred me to pain management (to get my pain under control because it had become debilitating) who sent me to the rheumatologist and geneticist that finally diagnosed me. This all took about 2 years.

Have you looked into the beighton diagnostic criteria? It’s available online and was used as part of a number of things used in my diagnosis. Personally I score the full 9 out of 9 but I don’t think you need to be able to do everything. Basically The Drs got together and reviewed my medical history (mitral valve prolapse, Keratoconus, IBS, migraines, temperature intolerance, subluxations, dislocations, deviated septum, history of anesthetics not working for me at the dentist, constant fatigue, GERD, Skin elasticity, and the list just goes on and on- but they used that along with a thorough physical exam plus the Beighton scale to come to my diagnosis. There are blood tests for most of the types of Eds except for the hEDS one, that’s clinical as they haven’t yet found what gene causes it so lab tests aren’t available for it.

I can tell you there were times I wanted to just give up trying to get Dx. When you’re being sent from one dr to another and it often takes months to get appointments, it’s incredibly frustrating but I knew that with the way things are going with so many doctors being afraid to prescribe sometimes much needed pain medications I had to push on for a diagnosis to ensure that my pain management doctor would be confident and comfortable prescribing increased medications in the future should I need it. Some say it’s a progressive condition, others say it’s not, but for me, my symptoms have definitely been getting worse over the years.

How do you know the rheumatologist you’ve been referred to isn’t knowledgeable about Eds? Have you spoke with their office or that doctor? Some of them are. Mine had atleast some knowledge about it, but did need to consult with a geneticist and have them come in and do an additional physical exam on me before officially Dxing me.

Are you from the USA? I’m unsure how the process might work outside of the US.

I wish you luck in getting a diagnosis and if you have any questions you can feel free to PM me anytime. Take care!! 🙂

You may also like...