Diagnosing JHS (HMS), EDS IV and Marfans

[Rosie]

Hi Hazybee

Change your Dr! It may be worth one last try with your current GP, being firm but insisting that you want a referral to a rhuuemy or geneticist who can distinguish between the different types of EDS. Point out that it is important that you get the correct diagnosis, as there are major differences between EDS Hypermobility type (ie HMS) and EDS Vascular type (type 4). If you ahven't already done so, please have a read through the link at the start of this thread as it gives the diagnostic criteria of the various types.
When you mention burst veins, are you talking about the small veins, thread veins, or more major ones. Many of us have thread veins on our bodies, particularly legs, and these ten to get worse as you age, so I don't think these are too much to worry about. However, anything else would be worth investigating.
If you still have no joy from your current GP, try seeing another GP in the practice, or think about asking your local PALS if they can advise you how to go about seeing someone who could help with your diagnosis.

Rosie

[Hazybee]

thank you Rosie,
had large bruising on my leg in quick succession and Dr doesn't know what it is also other symptoms which made me question my original diagnosis. will have to go back and have another try with her as she is the nicest one there thats why I changed to her. Asked to see rhummy but she thinks that it's pointless and referred me back to physio again. How can i get a referral to hms clinic or specialist i live in sheffield but would gladly travel anywhere.
Once again thank you Rosie I appreciate your quick reply

[Hazybee]

who are local PALS ?

[Rosie]

Hiya

Have a look on this thread for an explanation of PALS. If you do a search on PALS you will find they are kmentioned quite a lot on here.

Rosie

[Hazybee]

Thank you sooooo much Rosie never knew about PALS will have to contact them

[Lauren]

My rhuemy today said my HMS is benign. She told me by the looks of my skin I don't have EDS and if I had Marfans then I would have other problems too, though she checked my heart to be on the safe side.

I can understand that people don't like their condition being called benign because it makes it sound like it isn't a big problem for people who have it, but it sounds to me that doctors just mean that it isn't caused by any syndrome. That way it's a bit less confusing.

[Rosie]

Hi all

In the medical world benign= not life threatening, as in benign or malignant tumours, but it doesn't mean it won't cause problems.
Marfans, on the other hand, and some other types of EDS, can have life threatening symptoms, so the medical world tends to concentrate on them.

Rosie

[hej500]

Hi,

I'm in a slightly strange situation with my diagnosis. Basically my sister has HEDS and sees a specialist. My local rheum has said I display HMS but won't diagnose as he doesn't feel he knows enough about it to do so. He has however proceeded down that route - referred me to physio, OT and i've had an echo. He also said that if I wanted he'd be happy to refer me to a specialist, probably my sisters. At the time we left it (mostly becuase it's a two hour train journey away), however my symptoms have deteriorated and I was wondering if it would be worth seeing a specialist and getting a firm diagnosis.

I'm not really sure what I'm asking, I guess, have people found that having a firm diagnosis instead of almost firm, helped them in any way?

[Rosie]

Hi

Have a read through this thread and you will see what other people have done. Some find that a diagnosis is helpful for themselves, i.e. it gives a name to all their symptoms, explains a lot about what happens to their bodies and helps with accepting your ocndition. For others it opens the way forward for treatment and/or medication, and it can make it easier when explaining to other people. This is not the situation for you, although it may be helpful to be able to say 'I have HMS/EDS-H, this is what I need' at some point. It can also be helpful if you ever need to claim benefit, see an OT, or apply for help with care needs.
I can't think of anyone who has regretted getting a diagnosis, but some people find it more helpful than otehrs.

Rosie

[gill]

Hi all, could someone tell me if Generalised Joint Hypermobility is the same as BHJS.

thanks

Gillxx

[Blaadyblah]

No. 'Generalised joint hypermobility' simply means that there are many hypermobile joints, which is of itself not a problem. Up to 20% of the population have some degree of generalised joint hypermobility.

BJHS is one of the names by which HMS/HEDS/EDS3/JHS are known and refers to the Syndrome (with the patient meeting the various criteria for EDS/JHS), rather than general 'double jointedness'. Benign is a red herring here, it doesn't mean the symptoms aren't problematic, just that they won't kill you.

[Rosie]

Hi Gill

No, general joint hypermobility is not the same as HMS, but it is part of it! HMS is more than just joint hypermobility. If you have a look at the start of this thread you will see the diagnosric criteria for HMS/EDS-H. It is includes the Beighton score which is a series of tests for hypermobility on some joints, the little fingers, elbows, knees, wrists and spine. The presence of joint hypermobility, or the history of it depending on age, is what is being scored.
On it's own, joint hypermobility, also called double-jointedness, affects up to 20% of our population, and for the majority of people it does not cause any problems and can be an advantage, but for the minority like us it can be part of HMS.
Some Drs can recognise hypermobility, but are unaware of HMS and how it can affect people.
Hope this helps

Rosie

[Lauren]

I don't score very highly on the Beighton scale. The only symptoms I have the feature on the beighton scale are my thumbs and little fingers.

[Rosie]

Hi all

Lauren, one of the reasons that the Beighton scoring is not used on its own for diagnosing HMS is that it only looks at a few joints. As it is possible for us to be hypermobi;le in one, a few, most or all of our joints, and still have HMS, it is rather hit and miss as to whether we happen to be hypermobile in the 4 joints the Beighton score looks at.

Rosie

[Lauren]

Sorry! I didn't actually mean to post that!

What happened was that I was in a rush, realised I didn't have time to finish writing out the post and must have clicked post rather than just clicking off the site. XD

I meant to go on to say that I think I might have been diagnosed using the Brighton scale, (I think it's the brighton scale!) which takes into consideration multiple dislocations of the same joints. I think...