Hypermobility/HEDS recommendation?

[Winter_night]

Hi there. Thanks for taking the time to read my post. I posted on the EDS forum but it’s not very active and no response yet. I have recently been diagnosed with PoTs and have fibromyalgia and erythromelalgia. I’m in the watch and wait category I believe for auto immune inc lupus but at my recent autonomics appointment my hyperflexible joints were mentioned and I was asked if I'd been assessed for hypermobile EDS. I would like to find someone specialist in London ideally who I could talk this through; my next NHS rheumatology clinic is ages away and consultant is very focused on autoimmune signs and fibromyalgia. I would just like an opinion and a bit more info. Any recommendations would be appreciated - thanks!

[ali998]

Have you tried the HMSA, their website is hypermobility.org and is very current and active. Hope this helps.

[Winter_night in reply to ali998]

Hi ali998 - I'll do that, thank you!

[MEGS53]

Hi WN

I've recently been dx'd by my rheumy with Ehlers Danlos Syndrome, after lots of years being convinced that I have an autoimmune condition, possibly Lupus.

A great many of my symptoms are very, very similar to the AI syndromes. Mind you, I also have other conditions (muscle disease; dysautonomia; diastolic dysfunction; pernicious anaemia) which might have clouded the picture. Lucky me, eh 😬😬😬

I have an appointment at our local genetics clinic at the end of March to investigate which type of EDS my genetic profile indicates. Mind you, hEDS doesn't seem to have a genetic marker, as yet. I'm known at the genetics clinic as they've investigated my muscle disease extensively.

Genetic testing for EDS doesn't seem to be widely available and rheumies with knowledge of the condition are thin on the ground. However, after many years, I got lucky and found one that put the convoluted jigsaw together and dx'd me with EDS on clinical evidence. I live in the NE England - a long way from London - and this was done under the NHS.

Please let me know if I can do anything to help. Good luck, xxx

[Winter_night in reply to MEGS53]

Hi     MEGS53 - thanks so much for taking the time to respond and for sharing. im

sorry to hear you've had so much to contend with health wise, it must be tough. i've had numerous rounds of autoimmune bloods because there is RA and lupus on one side of my family but i have no antibodies, no positive ANA... but the rheum 'wants to see how things are progressing'. i'd not heard of EDS or H-EDS until it was mentioned at autonomics but at my first rheum clinic a year ago the consultant noted 'only knees are hypermobile' so i'm confused to say the least! ive tried the beighton tests and i think i score 8, possibly 9 as my palms are almost fully on the ground when i bend. the wrist and finger tests are easy and my elbows are very clearly 'v' shaped why i extend them. now pots has been confirmed, as well as erythromelalgia, im hoping the rheum will agree to explore whether or not my pain is anything other than fibro, as he insists it is. ive written to him and asked that ahead of my next rheum clinic he refer me to an eds specialist if he's unable to screen/assess himself. im not holding my breath but i think on the overall heds criteria i am very close based on hypermobile joints, skin and scar characteristics, gastric issues, urinary issues and pain symptoms. even if i dont hit every marker id hope an eds specialist would be able to say that i am so far along the spectrum and so close to h-eds criteria that it should be treated as such. i dont know my full family history on the other side which is a shame, i know there are lots of joint issues but no proper diagnoses and no access to healthcare for some... do you mind me asking if you hit every criteria neatly for h-eds or if you were close enough that the specialist was confident to diagnose? huge thanks again for your response, it is really appreciated xxx

[MadDonna8 in reply to MEGS53]

Hi 👋🏻

Just catchin up on post - where in NHS .. northeast did you get that support ? I’m near Hull - fab diagnosis at Hull hospital and great physio too - after long waiting time - but many questions arise from diagnosis and family history could see a further 3 generations being undiagnosed too!

[MEGS53 in reply to MadDonna8]

Hi

We live in the NE England. The rheumy who dx’d me with hEDS is an NHS consultant working from N Tyneside general hospital.

As you know, there isn’t a genetic test for hEDS, so dx is dependent on clinical features and medical history.

Good luck xxx

[MEGS53]

Hi WN

Do I fit all the criteria for hEDS based on clinical evidence???

Wow, that's a tricky one to answer, but I'll give it a go. Please note that I'm certainly not an expert on EDS - I was only dx'd about 6 months ago - but I can give you my understanding of the condition:

There are 13 types of EDS with genetic markers for all but the most common and least severe one, hEDS. This tells me that hEDS has probably several genetic and/or environmental causes (or a defo genetic link would have been made by now). Currently hEDS is dx'd on clinical presentation, which makes getting one very tricky as clinicians don't like to be proven wrong along the line. My rheumy is certain I have EDS (possibly hEDS) BUT there seems to be huge variations in clinical presentation, even within those with hEDS. And huge presentation differences within each of the other 12 types of EDS.

You may be 'lucky' and have a genetic mutation for classical EDS or classical-like EDS (the most common types after hEDS) and therefore get a defo dx. BUT there is no treatment for any of the EDS forms, other than supportive care and a spot of understanding - which is soooo important, eh 🤗🤗🤗

You certainly seem to be hypermobile, but do you have EDS 🤷‍♀️🤷‍♀️🤷‍♀️. I guess the jury's out and that's sooo very difficult to deal with, isn't it.

Knowledge is power and my advice is to read up as much as possible about EDS and then you'll be able to talk to your Drs with this under your belt.

I hope some of this has helped, but I'm happy to answer any questions if I'm able to.

Take care, xxx

[Winter_night in reply to MEGS53]

great advice - it’s been a massive help, thank you again! im going to push for it to be considered at least, and you’re so right - knowledge really is power. wishing you well xxx

[MEGS53 in reply to Winter_night]

All the best 😘, please keep us updated

[Winter_night in reply to MEGS53]

 MEGS53 I saw a specialist hypermobility physiotherapist today and she is confident I have h-eds. She went through the diagnostic checklist & my mind is a bit blown by how unequivocal it was to someone who understood exactly what to look for. The next step will be taking her report to my NHS rheumatologist which is going to be fun given he’s been adamant I have fibromyalgia but I’m not ‘accepting it’ 😅 I feel overwhelmed but also massively relieved and it was great to speak to someone who fully gets it. I feel like with her and my GP on side I’m almost there. Your advice really helped focus me on a way forward so thank you again. I hope you’re doing well and enjoying the sun x

[MEGS53 in reply to Winter_night]

I’m delighted to see you’ve got a dx at last.

Would you mind sharing details about your physio as see seems so positive and knowledgeable. Maybe by PM would be best.

🤗🤗🤗🤗