Wednesday 1 May 2019

hEDS vs HSD & Why correct diagnosis does matter // for EDS/HSD Awareness Month 2019

NOTE: all views and statements in this post are my own.

Living with HSD (Hypermobile Spectrum Disorder) is incredibly difficult, both in terms of medically with the symptoms and the complications and co-morbidities which I'll come onto later, but also over time I've found that some people from the chronic illness/EDS community feel that HSD isn't as serious or as important as hEDS (hypermobile Ehlers-Danlos Syndrome).

Initially I was given the diagnosis of Joint Hypermobilty Syndrome by my neurologist and he referred me to a specialist rheumatologist at UCLH for investigation. 
JHS was a term that was used interchangeably with EDS Type 3/EDS Hypermobility Type. But at the time I was going through the process waiting to see an EDS/HSD specialist rheumatologist to get my official diagnosis the new diagnostic criteria classification was brought in and HSD was created as well as changing EDS Type 3 to hEDS along with the development of 13 subtypes of EDS.

Under the new HSD/hEDS classification I didn't meet the now much stricter criteria for hEDS even though I did have many hEDS symptoms so I was given the diagnosis of HSD. (If I'd been seen earlier I probably would havegotten the diagnosis of EDS Type 3.) 
My rheumatologist did suspect I might have had vascular EDS as I had the facial features and some of the symptoms so I went to the National EDS Genetic Diagnostic Centre in Sheffield to get tested. Thankfully it came back clear.
  • Fact: Apart from hEDS all the other types of EDS can be diagnosed through genetic testing.

This post all stemmed from a conversation I had a while back and I felt the need to make a post about it.

I commented on a post on Instagram and I asked whether hEDS could be being misdiagnosed in some people by less qualified professionals such as GP's or generalised rheumatology consultants who don't fully understand EDS/HSD? 

I feel that it would be easy for an individuals seeking and maybe in some cases pushing for a hEDS diagnosis (who yes does have a degree of hypermobility and may have one or two other hEDS symptoms) but they don't actually have hEDS but actually have HSD instead.

My point was that some people could easily go to their GP or generalised local rheumatologist with a bunch of information about hEDS and say 'hey, this joint and that joint is a bit too bendy and painful; I think I have hEDS?' and they take a carefully selected bunch of info on hEDS which they are convinced they have and the GP or local rhumatoligst isn't as clued up on EDS/HSD and /or the new classification criteria and how to use it and so they may get incorrectly diagnosed. This is something I worry about as correct diagnosis is vital. (Even though the treatment for hEDS and HSD is the same).

I think this is especially because there's more information and awareness of EDS now which is great but it seems that more and more people are coming out with having a diagnosis of hEDS? (That's just my personal observation.) And more people are aware of hypermobility and might jump to the conclusion that they have hEDS and so go and seek a diagnosis.

  • Many people are hypermobile but don't have hEDS or HSD - just look at dancers, gymnasts or athletes.

I feel that GP's and generalised rheumatologist who don't have a particular area of speciality aren't equipped with the knowledge or expertise to diagnose such an illness like HSD and EDS as they are such complex illnesses and individuals may require a lot of specialist multidisciplinary support.

I feel that the way forward is for all clinicians to refer to the hEDS/HSD diagnostic checklist and to refer individuals suspected to have EDS/HSD to specialist rheumatologists to be officially diagnosed. I know this will put a stretch on EDS/HSD specialists but it will mean that individuals are getting the right diagnosis as well as access to the treatment that is right for them.

I especially feel this should happen because individuals like myself have seen highly specialist rheumatologist and/or geneticists to get our diagnosis so we've gotten out diagnosis properly. When I saw my local rheumatologist several years ago now his belief was that that EDS was a childhood illness and told me that I should have grown out of EDS, which just shows the lack of specialist knowledge that some general rheumatologists have when it comes to EDS.

Going back to the conversation I had on Instagram, someone commented on said it didn't really matter about people being misdiagnosed with HSD which really got to me, as yes it does matter! (I wanted to comment back but I didn't want to start an argument online.)

HSD is a diagnosis that does matter and individuals with HSD can have just as much a level of disability as those with hEDS and have similar symptoms and can also get the secondary complications and co-morbidities that people with hEDS also develop. So getting the correct diagnosis of either HSD or hEDS does matter. HSD shouldn't be brushed off like it doesn't matter.

If you get misdiagnosed with hEDS it may lead to unnecessary treatments and taking medication and undertaking other treatments that you don't need. 

There are also those living with the old EDS Type 3/EDS-HT (what is now hEDS) or JHS diagnosis  who would now no longer meet the new classification criteria for hEDS but instead if they where to be assessed now under the new 2017 classification for HSD/EDS would be diagnosed, maybe, with HSD instead, but because they was diagnosed before the new classification they still use EDS as their diagnosis. But that's a whole other conversation for another day and I want to avoid an controversial discussion. 

Hypermobility is a spectrum. Many people live with hypermobility and for most it's an advantage such as for dancers, athletes and gymnasts. Only in a small percentage of people who are hypermobile does it become a problem. 

On the official checklist for HSD/EDS I met many of the criteria for hEDS. I had more than enough points on the Beighton Scale for hypermobiltiy and I scored on every point of the 5 point questionnaire. I have abnormal bruising and scarring and stretch marks without any reason for them being there. I have reoccurring joint dislocations and subluxations, joint instability as well as musculoskeletal complications and pain in numerous limbs/joints on a daily basis for over 3 months (in my case years). Chronic widespread pain, again for at least three month; in my case years (but chronic pain is a common factor of most of my illnesses). I also have bilateral piezogenic papules of the heel (don't exactly know what they are but apparently I have them). So I ticked many of the boxes but not enough for a hEDS diagnosis.

The whole official diagnostic process is very rigorous and despite all my positive symptoms on the checklist my diagnosis still came out as HSD as I didn't t meet the now stricter criteria of hEDS. It was sort of bitter sweet as I was already acutely aware of how people see HSD as a lesser illness and something that's no big deal, but for me HSD is a big deal.

Like I mentioned above I still have just as severe complications as people with hEDS. I have multiple dislocations/subluxations a week - sometimes even just putting on a t-shirt or reaching for a cup in the cupboard will cause my shoulder to sublux or dislocate. Having seizures is a nightmare as I often sublux or dislocate joints during them making seizures extremely painful. I wear braces and splints to help stabilise my joints. I'm under gastroenterology, orthotics, cardiology, urology and other specialists for the complications that having connective tissue issues causes on the different organs in the body for example intestinal dysmotility. I have dental problems caused by TMJD because my jaw joint is lax. I also have Autonomic Dysfunction also known as dysautonomia which has caused me to develop PoTS and neuropathic problems which are all common co-morbidities in people with HSD or hEDS. I take numerous medication to help with my different types of pain and symptoms. I also don't respond to local anaesthetic. The list goes on. 

What I'm trying to demonstrate and show to you is that HSD is as serious and as problematic as EDS/hEDS and how HSD affects me it's not a diagnosis that should be brushed off as "oh well it's not as bad as having EDS and it doesn't matter if HSD misdiagnosed". It does and should and does matter. I want to demonstrate that HSD is just as bad and comes with just as many complications as EDS and it's just as difficult and disabling to live with. 

Inside my collagen and connective tissue is still as abnormal and stretchy as someone with EDS.

All it came down to is a checklist of symptoms, which I personally believe should only be carried out by experienced and/or specialist rheumatologists and/or EDS/HSD specialist geneticists.

I have to travel a lot to London (roughly a 5/6hr journey) for my care to see specialists in different specialties who understand the complications of HSD/EDS for which I'm incredibly great for - the travelling is a nightmare but I'm under some brilliant Drs and getting good support for pain management and physiotherapy. 
If HSD wasn't as "serious" why do I and others with HSD live with all these complications and symptoms and need see all these specialists?

It was sort of bitter-sweet getting my HSD diagnosis as I was glad I didn't have vEDS but I already know in the back of the mind how others view HSD as 'not as serious' (and this comment came from some with in the chronic illness community who has EDS Type 3), but I know from living with my body and all the complications that comes with having HSD that it is serious and shouldn't be taken lightly or shrugged off. 

When I saw my rheumatologist, Dr Kazkaz (who is highly regarded in the UK for HSD/EDS) and I said about how people view HSD as 'less serious' she told me it defiantly wasn't the case and whether you have the diagnosis is HSD or EDS the treatment and complications are just the same and that people like my gastroenterologists will treat me just as they would a patient with EDS presenting with the same symptoms.

I hope this posts sheds some light on HSD and it's complications. This is just my experience of HSD and that's why we are called medical zebra's, because no two zebra's stripes are the same. 

I also hope that you go away with an understanding that whether it's HSD or EDS our collagen and connective tissue is just as faulty and whether your diagnosis is HSD or EDS it doesn't matter. 

What matters is awareness of HSD and EDS and how it affects lives of people living with the condition.

For more information about HSD and hEDS go to Ehlers-Danlos Support UK or the Ehlers-Danlos Society
You can also find more information at the Hypermobility Syndromes Association.

This is just my own opinion and I don't mean to cause offence to anyone reading this but I just want to highlight the importance of getting the right diagnosis, and that HSD needs to be taken seriously and also not just with EDS and HSD but with all illnesses getting the correct diagnosis is important.