Diagnosing JHS (HMS), EDS IV and Marfans

[nemonie]

Hiya (again )

I saw Prof G privately (as my rubbish old GP wouldn't refer me) and he recommended referrals for my POTS to NNH in London, to Prof Aziz for my gastro issues and to RNOH at Stanmore for physio and pain management Rehab. These referrals were done under the NHS (I was rationed to two by my said evil GP, so chose POTS and Rehab). At Stanmore there were several patients with CRPS as well as lots of EDS and HMS patients, so they have lots of experience of both types of patients.

[anaqi]

I've been sent a copy of the letter from my rheumy. Basically he told my GP that I have a Beighton score of 1 and that "this degree of flexibility is quite remarkable" when considering my degree of disability. He also said that they would refer me for a musculoskeletal physiotherapy assessment and they would assess me against the Brighton criteria for benign joint hypmobility.

I have a physio appointment for next week so fingers crossed.

Clair

[Jill]

Thank you, Englishgremlin1, I'll try to contact them when I get to London next time! Have you had any experience with them?

[trekster]

I found my diagnosis confusing and got no information about it so I came here. But it shouldn't have to be relying on charities
and support groups to get information about complex disabilities such as this one. Ideally being asked questions to identify
whether you might have POTS or other commonly associated disabilities along with HMS would be handy for future professionals
to know. Would save us even longer in distress trying to work out what best to do for our bodies. I've had quite a bit of popcorn
today so lasted from 930am until about 9pm until I went to sleep was up again at 1am. So now im wondering if that's a POTS
thing, a bendy thing or something else.

Got a few appointments coming up in the next few weeks eye test, genetics, podiatry and still gotta try and wait for peridontology.

Hoping my geneticist will shed some light on things on the 8th.

[Englishgremlin1]

I have been under their rehab programme and know it is one of the few hospitals where they know of EDs and are used to dealing with it.

Good luck and hope you get some progress.

[trekster]

I've been checking out the arthrosclasic type of EDS/HMS and im starting to feel I fit that
criteria more than the others. Going to write to the hospital I was born for my birth
records spoke to a really helpful person on the phone today and felt listened and understood.
Also my geneticist can request my birth records as well so will discuss with her.

Autistics can sometimes have problems expressing pain and since my mum had a hard time
during her labour doctors might (in the late 70s) have missed the hip dislocation test on me whilst
she was receiving more blood. The tests appear to be done on all newborns after 1960s.

Another option is that my hips were dislocated but my mum didn't feel the need to tell me.
Would doctors examining the infant tell the mother if they had to reduce any dislocation?

When I was a child I remember having to push my thighs outwards in order to get my legs
moving after crossing them under the table.

I have all but the last 2 symptoms of the arthrosclasic type (if my hips were dislocated at birth)
according to another bendy website.

is it completely impossible to be arthrosclasic without the hip dislocation at birth?
Below I have highlighted what symptoms I have.

"The major diagnostic criteria for Arthrochalasia Type EDS are:

Severe generalized joint hypermobility with recurrent subluxations
Congenital bilateral hip dislocation ?

The minor diagnostic criteria for Arthrochalasia Type EDS are:

Skin hyperextensibility
Tissue fragility, including atrophic scars
Easy bruising
Muscle hypotonia
Kyphoscoliosis ?
Radiologically mild osteopenia " (but my mum has broken a bone suspected bendy and my sister)

Can you have more than 1 type of EDS in 1 family?

[Lisa77]

I have had a look through the topics and am not sure where this could go so I hope it's ok to start a new topic.

I was dx with HMS in 2010 after 20 years. The rheumy I saw was very quick to dx me and now I know HMS is a diagnosis of exclusion, Im wondering why I havnt actually been checked for anything else and even knowinh I do have HMS why tests for EDS types have not been considered. Should they be? My GP says that it is a diagnosis this rheumy gives out a lot and seems to have dismissed it!? The rheumy referred me to a private physio as there are were no HM phsios within the PCT I am under. The physio was indeed very knowledgable and has HM herself and was convinced I could be cured and would get better but week after week I continued to surprise her when all the work she was doing to put me back together was undone by the next session. It didnt matter though because apparantly as I get older I will be cured anyway. I no longer see her as I cant afford it and have been referred to NHS physios who are 'HM specialists' but when I get there they cant help me as although they are aware of HM they know they can make things worse. They provide exercises but all my joints are all over the place and it feels like although Im strengthening muscles to hold the joints in place, they are being held in the 'wrong place' if that makes sense. The orthopedic consultant with knowledge of HM seems to think there is no problem. My rheumy has given my open referrals and referred me to gastro as he knows there is a link with IBS and writes to my GP and other consultants when I need him too but insists on putting Hypermobility as my dx not HMS and this makes it really difficult to get people to take me seriously as they think Im just bendy. Im beginning to think that all of the 'specialists' I have seen, whilst experts in diagnosing hypermobility, or expert in the extent of knowing hypermobility means extra bendy, none of them actually have a clue about HMS, it being related to connective tissue in general and everything that goes with it. My 'care' now is so fractured..my GP is clueless and my rheumy could help him to understand but just dosnt seem to get the whole subluxing/ pain/ fatigue / I have no quality of life left side to it all. The PCT wont fund a referral to UCHL and I feel like Im fighting a losing battle with HMS and the medical profession. Is this a common? I really thought I was under the care of HMS specialists who knew what they were doing but I feel like I'm going nowhere. Can someone claim to be an expert in something when in actual fact they are only experts at identifying it?

[AnnaH]

I don't believe HMS is a diagnosis of exclusion - there are some very specific tests for it (Beignton Criteria), although obviously conditions like RA have to be excluded. HMS basically is EDS, hypermobile type. They are, to quote the experts "clinically indistinguishable". It's just for historic and scientific reasons that many doctors in UK prefer to use the term HMS.

I'm not sure I have understood you, but HMS doesn't get better with age, although it can flare up and go into some sort of 'remission'. My doctors tell me that generally it gets worse as you get older, and is often complicated by early onset osteoarthritis (wear and tear) and osteoporosis. In addition, with time, flat feet tend to get flatter, and curved spines (scoliosis) can become more curved. At least, that is my experience. Maybe what they meant was that children and teens often seem to go through a bad patch which turns out not to be HMS/ EDS by the time they are fully grown? And that's why its so difficult to diagnose in under-18s, without a crystal ball to know how the child will develop. But you and I were both diagnosed as adults.

It's pretty common for doctors and physios not to know as much as they could about HMS/EDS, and for doctors to mistakenly assume you're just hypermobile, rather than having Hypermobility Syndrome (the second word is vital, as you understand). However, of course there isn't a cure for it, whatever you call it, and as you've been diagnosed properly already, I'm not sure what you hope to gain from a visit to UCLH? Although I totally understand how pleasant it would be to talk to doctors who actually understand your condition and don't need 'educating'.

This is a question I've had to ask myself recently, but what is it you feel you need that you are not getting at present? Given that magic wands haven't been invented and whatever do, we still have HMS. Maybe if we are clear about what we want, it would help us think of ways of achieving it?

[Rosie]

Hiya

Annah is right, EDS hypermobility type and HMS are thought of as the same condition by the experts. EDS-H/HMS is somewtimes refeered to as a diagnosis of exclusion because there is no specific laboratory test for it. For other types of EDS there are genetic tests that can be done, but not for the hypermobility type. They usually will only refer for this kind of testing, or skin biopsies, if you show symptoms of the other types. There are, however, the major and minor diagnostic criteria that Anna has referred to.
We are often told that our condition will improve with age, but this tends to be mre about hypermobility than HMS. As we get older our ligaments, joints etc stiffen and so the hypermobility is limited, but this does nothing to help any damage that has already occurred, or any problems with other body symptoms. Flat feet will not suddenly develop arches, or speines straighten themsleves, even if they do stop getting any worse.
It is also common for us to find medics who say they know about HMS, but do not understand the full implications of the condition, or only really understand about hypermobility. It is quite rare to foind an orthotic consultant who recognises HMS/EDS-H but they do exist, my daughter was referred to Stanmore for her scoliosis because the consultant there knows about EDS causing scoliosis.
If you have already been refused a referral to UCLH, it is hard to see how your GP caould refer you to one of the specialist HMS clinics (listed on the main website) but you could appeal.

Rosie

[AnnaH]

Rosie,
thats interesting about HMS generally getting better with age, because of course my experience has been the exact opposite. I am now far more disabled by HMS than I ever was when I was younger, and my joints have become much more unstable. Although I am very stiff as well, in some joints. I can still put my palms on the floor with straight legs, however.

But in my case, I'd say when I was younger I was just hypermobile, and accident-prone, but it didn't really cause me severe, chronic problems. Now days, I have the full-blown syndrome, damaged Achilles, damaged feet, arthritic hands, a dodgy shoulder, plus all the internal problems which haven't improved with age (in fact things like prolapses generally worsen as women get older). Then again, apparently I'm not a straight forward EDS-H, I've got traits of other, much rarer forms instead (although Donna tells me that's not that unusual for HMS people either). We had assumed we all got it from my grandfather's side, but I've just found out my grandmother had POTS, so maybe we got it from both sides?

Re. the genetic tests: my friend's child is suspected to have the Classical form of EDS, with the mega-stretchy skin, and we've been told there isn't a genetic test for that either. So it seems there is only a genetic test for vascular EDS and Marfans (which he certainly hasn't got, being tiny for his age). I'm not quite sure how they'd diagnose Classical EDS, or how they'd distinguish it from HMS/ EDS-H, or whether it's even relevant to worry about the label.

It seems to me that the problem is uneducated doctors and physios, whatever you call it. If we can teach them about the condition, the joint problems as well as the internal problems, then maybe things would improve for us all, whatever of the Hypermobility Syndromes we have.

[nemonie]

It is known that at least 50% of people with Classical EDS show a mutation in either COL5A1 or COL5A2, and there is gene testing available for these genes.

[star gazer]

An interesting point having read the last few posts, My orthopod at the local hospital who I see for ankle instability is an ex Stanmore doc, all his letters have come out with a diagnosis listed at the top., number 1. on the list is diagnosed ehlers danlos type 3. same with the gastro team, it would seem that they prefer to use EDS instead of HMS.
regards the joints not being so bendy as we get older, I was told that with wear and tear we develop osteophytes (I have them in my neck) and in a hypermobile joint the osteophytes will start to restrict movement. I had a very hypermobile neck but now have sponylosis and my neck can no longer bend to the left, I am wondering if this is what they mean by becoming less hypermobile as we get older?
Another thing is that out of the four now diagnosed in my family with eds 3, three of us have Marfans habitus, and also some classic eds features too, but prof Grahame said that in some cases there is a "blurring at the edges where there is an overlap in types" and that four in the familiy will not all have the same list of problems.
sg

[AnnaH]

Certainly, those of us with HMS/EDS (a rose by any other name will smell as sweet - and the thorns just as prickly! ), are more prone to osteoarthritis, tendon calcification and the development of scar tissue in the ligaments and tendons, due to unstable joints and the increased risk of injury. That could make us stiff as boards. But that isn't truly reducing our symptoms, just over-laying them with other symptoms.

But I suppose it is a useful warning to other doctors not to assume that all HMS patients can do the limbo.

This labeling thing is annoying me. I just read a book about the latest state of play in the HMS world, and it was clear from the number of times the phrase "more research is needed", that we really don't know an awful lot about these conditions, their biochemistry or their genetics. We currently diagnose by clinical examination ie. its a clinicians opinion, based on diagnostic 'check lists', experience and comparing one patient with another. That isn't uncommon for many conditions, but since our condition is clearly inherited in most cases, it would be great if they could find the genes responsible.

It could be what they call 'epigenetic' however - that is a gene or genes that are 'switched on' or switched off by some environmental cue. So for instance, you are conceived with the gene but you get HMS or not depending on what chemicals or germs your mother encountered while you were in the womb, or that you encountered growing-up. That could explain why only some members of a family are affected, but not in any pattern a geneticist can determine, and why individuals in a family are affected so differently. Why for instance, I'm one of the least bendy in my family, but I'm the one with HMS and they're just healthy but double-jointed. Is it because I had organo-phosphate poisoning as a small child? (my dad's pet theory).

Sorry for the tangent, but one of my doctors constantly corrects me and says I have EDS, not HMS; another constantly corrects me and says HMS is the 'modern term' and that he dislikes EDS as a term, except for the vascular type patients. So I'll just say I have knackered joints and be done with it!

[Catharticmelon]

I wonder if anyone can point me towards a good pain specialist or pain consultant in London please, who has good knowledge of EDS? Either NHS or private. Preferably one who will give good advice on pain meds rather than trying to get me to come off them!

Thanks very much!

Vicki

Modnote: Duplicate topic removed. Please consider forum rules: do not name medics on the boards, use the pm system instead if you must name someone.

[gila]

hi catharticmelon

dr h c (I'll pm you full name) immediately came to my mind when I read your topic title- she is a pain specialist AND really understands EDS/HMS -together with other docs and physios she has afaik developed and runs the stanmore EDS/HMS inpatient rehab course- so she really does know her 'bendies's pain' stuff

but... depending on what/how much pain meds you take... she might well suggest you try to (slowly) lessen intake/poss even try to come off some of them and replace with non-meds pain management techniques...
these days, due to advances in understanding how the brain and chronic pain work most chronic pain specialists will advise managing the pain with a combo of meds and lots of non-meds techniques rather than 'just' relying on meds...

if you havent yet...I'd say have a read through the whole "pain and hypermobility' info on the main site (go to http://www.hypermobility.org/ and on the left hand of page you'll see a section "pain and hypermobility' )- good and reliable info on pain/pain meds/ non-meds pain management for HMSers (by profs/physios who understand HMS!)

and of course there's lots of threads on here on various meds for pain that peops have tried/are taking and their various successes and problems with them - as not all meds work the same/at all for all peops... it often is trial and error to find the right med/combo of meds/combo of meds and non-meds/dose of med etc for each of us...

even though this wasnt quite what you were looking for ... hope this helps a bit
xxg