Understanding Needed Please

[Jk2833]

Hi I've been diagnosed with being on the hypermobility joint spectrum, apparently all types of hypermobility come under this name now according to my UK geneticist. I was being assessed for EDS.

I had a patella realignment when I was 7 so I knew back then what it was like to have easy dislocations etc. I'm 39 now and I feel this is the first time my condition has been acknowledged. I scored 4/9 on the Beighton score and now being sent for heart scan and neck scan. I have angina and had thyroid surgey years ago too so my blood vessels in the neck are also being scanned. Has anyone had this done?

Also if I'm found to have a cardio/ blood vessel problem does this mean a different score on the Beighton scale and a higher probability of EDS?

Any advice would be appreciated

Take care

Jk

[Steenygirl1]

The Beighton scale is used to measure the flexibility of joints only. It is part of the dusgnosis. Look at the eds uk and hypermobility websites

hypermobility.org/

ehlers-danlos.org/

They will give you guidance on diagnosis criteria for eds which will include the Brighton scale. However if you have been checked by a geneticist I would have assumed they would have picked up vascular eds. Hypermobile eds is not diagnosed via genetic testing you have to see a rheumatologist specialising in hypermobility for that. If you are in UK there are a few available on NHS, usually a general rheumatologist refers you or you can pay approximately £300 and self refer. They would give a thorough examination and would look at your past medical history and family medical history. I recently did that and after increasing pain and difficulties have been diagnosed with heds just 2 months short of my 55th birthday!

The cardiologist and blood pressure problems could be related POTS, depending on your symptoms. This is a comorbidity of eds and not currently part of the diaosi criteria. It is part of an autonomic dystonia which you will also be able to see on the websites. I have POTS symptoms which I find I'd worse with higher pain levels and fatigue. However it is important to get an echocardiogram which will pick up any valve or aorta problems. Perhaps you have already had this with your angina diagnosis.

All I can say is check out the websites and ask questions of whoever diagnosed you with the hypermobility. Good luck

[Jk2833 in reply to Steenygirl1]

Hi thank you for taking the time to respond with much needed information.

I received a letter this morning saying I have hypermobility type Ehlers Danlos Syndrome and geneticist wants further info on my mini stroke a few years back. It states this is to find out if the stroke was secondary to a bleed and if so I need a COL3A1 mutation analysis.

I was told by a rheumatologist & Physio years ago about the hypermobility but they were never too worried about it, but that's typical of the doctors here😡.

There's also mention of no history of vascular EDS however imaging of cartroid arteries are requested.

A lot to take in as I thought I was just hypermobile, maybe I'm just being a drama queen as it's so painful.

Thanks again

Jk

[Pennyguin14]

Hey hun I am 4 too. I have hypermobility EDS. If it helps you ask for more clarification. I wasn't diagnosed by a geneticist though, by a pain/rheumatologist doctor. Who used the Brighton and Beighton scales.

[Jay66]

Hi,

I think this is the page that you want, but it is unfinished at the moment. The ED society of USA has moved the original classification document, but I could maybe rustle up a copy if you'd like.

In the meantime, this is where it will be:

ehlers-danlos.com/eds-types...