Ehlers-Danlos Support UK

EDS, Seronegative Sjogren's or something else?

Hi

I have been on the diagnosis treadmill for a while now and late 2017 finally met a Neurologist and an Immunologist that at least think i am genuine and are investigating me thoroughly.

However so far apart from a couple of 1:80 ANAs, my bloods are very normal. So is my salivary gland ultrasound and my Immuno thought there was no point doing a lip biopsy for Sjogrens. He suspects EDS.

EDS may be possible but i am definitely not flexible, dont have stretchy skin and dont meet criteria for the hyperflexible type as far as i can see! There is some family history that may suggest it though and my twin boys have hyperflexible hands. But my husband has more range ofmovement than me so the twins may get it from him!

I have very dry eyes and cant produce tears except for slight reflex moisture. Dry mouth, private areas, nose throat ears skin...list goes on. I have confirmed Lichen Sclerosus which is debatably autoimmune. I have odd autonomic symptoms involving hear rate blood pressure body temperature bowel etc. I have had numb patches randomly on left foot, reduced proprioception involving feet or legs, and prickling in hands n feet, crawling bug sensations esp scalp and phantom itches. Visual and smell oversemsitivities. list is endless.

My question is this...is EDS characterised by SUDDEN SEVERE FLARES involving weight loss muscle weakness joint pain shortness of breath fatigue muscle fatiguability skin rashes esp after sun exposure, sensitivity to sun causing increased symptoms...and by sudden and severe i mean a big significant change out of the blue for no reason??? Because if it is genetic i can understand having a baseline of symptoms that fluctuates and gradually worsens but my flares seem more aligned to aitoimmune flares than what i have read about EDS.

Any information is welcomed please. even better if you can link to research or evidence that i can take to my rheumy.

Thanks so much for listening!

Cheers!

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Mine was very slow and crept up on me. Yes to all the symptoms except it is heat rather than sun which makes everything worse (and humidity worse still), and no weight loss. However, these are, as you know, symptoms which are common to a whole range of conditions.

hEDS people don't usually have stretchy skin. They often have stretch marks and easily cut or torn soft velvety skin (mine was in patches but by middle age mostly vanished).

But EDS does present differently in different people and it would be good to hear from others.

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Thanks Jay66. That's interesting about the stretch marks. I have absolutely none after two pregnancies. Not a single stretch mark! My skin seems pretty normal to me, isnt injured easily and i have hardly any scars. I had two caesars and an abdominal hysterectomy and the scar looks very good. I am not convinced this is EDS lol!

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It is good that specialists are now beginning to consider EDS in their differential diagnosis. I wish you luck on your journey towards a full diagnosis; people like us often have two or three conditions which cloud the picture. You may still have EDS - hypermobile or classical types are just two of the 14 official types and I don't know the symptoms of them all.

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Jar1973,

I was diagnosed with EDS hypermobile type in 2000 by Professor Rodney Grahame after being on the diagnosis treadmill for a few years and after being dismissed and belittled by the orthopaedic doctors. Doctors who told me that I was depressed and that was why I was experiencing such terrible joint pains, not that I had been in so much pain for so long, that I had become depressed😕!

I have a lot of your symptoms and in the past couple of years, I've become more and more convinced that I have SLE, (lupus). I am completely sun intolerant and will get a hot red and painful rash on my face and also get a rash on my limbs if I expose them to the sun. I will also have flu like symptoms afterwards and feel really unwell, so I don't go in the sun anymore. These symptoms came on later in my life tho, although I've never really been a sun worshiper and have never been able to get a good suntan as would burn too easily.

In 2005 I had my first diagnosed clotting events, multiple DVTs and multiple pulmonary embolisms and I have often wondered if I had experienced any clotting events prior to 2000 (or had them diagnosed I should say, as I'm certain that I had clots prior to 2005), would I have been given a diagnosis of SLE lupus as opposed to EDS, or even both? Blood clotting is connected to SLE.

I used to be hypermobile, did gymnastics and ballet as a child but always had pain in my legs when doing anything physical, I just thought everyone's legs hurt when they did ballet or went ice skating etc! Later in life, I'm 51 now, I have become less and less hypermobile due to the pain I suppose.

I also experience kind of 'flares' where I feel flu like, or I have terrible digestion issues and painful bowels for a while, or suffer with much more head pain and migraines than usual for a period.

I am also always scratching my skin as its SO itchy that I can scratch it till I bleeds. Arms, legs, head, back you name it, it itches!!

After having several more pulmonary embolisms, dvts and TIAs, I was also diagnosed with Chronic Thromboembolic Disease, which is just a general term for some sort of clotting abnormality. I think I have the clotting condition APS/Hughes Syndrome and like you I am back on the diagnosis treadmill, trying to get the haematologists and rheumatologists to look at the bigger picture and re-diagnose me.

I too have heart rate issues, very high heart rates on minor exertion and acute breathlessness, which are currently under investigation at The Lane Fox Unit at St Thomas' Hospital. I have recently been prescribed ambulatory oxygen which has really helped me but a lot of my breathing issues are most likely due to scarring in the blood vessels of my lungs, due to the many pulmonary embolisms I've had.

My respiratory doctor is also referring me to Queens Square to look into Autonomic Dysfunction because of my excessively high heart rates however I have been tested for it in the past and was negative. My heart rates go up as a direct result of the amount of oxygen my body needs but I could be wrong, autonomic dysfunction is linked to EDS and lupus and APS, so it's definitely possible that some of my symptoms are related to autonomic dysfunction.

I hope I've not worried you by mentioning all my clotting issues, I'm not suggesting for a moment that you might have clotting problems but I do think from your symptoms that it's possible you have Autoimmune issues.

I think that you should definitely ask for further investigations, or ask to see a rheumatologist who specialises in autoimmune conditions, it's best to get diagnosed as early as possible in life, so that you then know you will be given the most appropriate treatment.

Good luck with your ongoing diagnosis treadmill journey and please keep us posted with your diagnosis progress. Claire ☺️

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Hi leakeadea

Wow that is a lot to deal with! It is such a hard path to navigate, the health system, particularly with less common conditions. I am being referred to my third rheumy which is fun. The first was abrupt and told me i probably had a virus. The second saw my normal blood results and packed meoff to a neurologist at the second appoint. Both rheumies seemed fairly disinterested in my symptoms and history. I have found that specialists have lost the ability to take a thorough history!

The neuro was lovely. Spent 2.5 hrs first visit. Organised autonomic testing which wouldnt surprise me being bormsl cos that is how this stupid body of mine rolls! Dont see him again til April or so. Saw an immunologist amongst all this who did nothing but say see the neurologist. Found an immunologist who has a special interest in sjogrens and as bloods are ok bar borderline ANA he thinks EDS.

I dont think he knows much about EDS however as he couldnt answer any of my questions really, hence the 3rd rheumy referral. I think if docs suspect connective tissue issues, which he does, but no evidence of autoimmune, then they lump you either in the EDS camp or fibromyalgia or depressed lol! So i dont hold a lot of stock in the EDS side of things.

I should get into the rheumy in march so thays good.

It's a journey! Lucky for me my flare from 2016, which knocked me for six, has largely settled and i have just my day to day mild symptoms at present. So i am certainly grateful for that!

Thanks so much for sharing your experiences as it helps to realise you are not alone in it all.

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Gosh that sounds all too family although I'm anti seeking medical help as can't see point when so often misdiagnosed and put off! Hopefully things will get better for next generation!

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Do let us know what the next rheumatologist says about an EDS diagnosis.

I think that it's very sad how disinterested and dismissive so many specialists/doctors seem to be. I was going to say "seem to be nowadays" but if I think back to when I was searching for a diagnosis 20 years ago, I was still dismissed and belittled!

No one wants to be ill and in pain and when you are all you want to know is why, so you can hopefully get some treatment. I really don't understand the attitude of so many doctors and specialists, why be in the profession if you really don't want to treat and help your patients?

Let's hope that the next doctor you see is a kind and caring one who will help you get to the bottom of your symptoms.

Keep us posted,

Claire

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Thanks to both of you!

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Hi - just a quick update - I had my lung function test today but all they would tell me is my lung volume is on low side of normal; did not improve hardly at all with ventalin (asthma medicine) so is not asthma. I await seeing my specialist late March to discuss other results such as gas exchange and plan from there.

I have no idea about my autonomic testing results. It was a 'good day', and also I didn't see the instruction sheet (brain fog?! lol!) until it fell on the floor when I arrived late to the appointment due to weather/traffic. So was stressed on arrival, had had a coffee and eaten recently. I did disclose this but they thought it would be ok - although have read elsewhere that you are not supposed to eat or drink anything, not water either, for 12 hrs before the test from other international testing sites. At any rate, the results will be what they are.

It was pretty interesting - I was there 4 hours in total, including a 'sauna' haha! Had to lie in 42 degree C heat with goop on my arms and legs that showed up where I sweated. Had various breathing/BP/HR tests and an electrically stimulated sweat test. Also tilt table, but other than feeling like I was still moving up and forward for a couple of minutes even after the table had stopped, none of my symptoms happened. I was required to stand for 10 mins. I saw some tilt table tests go for 15 mins or even 30 mins, but to be honest 10 was enough lol!

Wait and see ;-)

Thanks for listening.

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I have EDS, sjogrens and ankylosing spondylitis. EDS stuff came out of nowhere. E.g. never noticed my stretchy skin then all of a sudden I have really stretchy skin! All after birth of my son. I also developed raging neuropathies. Sjogrens is a leading cause of autonomic damage. This is where it gets confused as eds affects autonomics too.

Took me 4 years of countless appointments to get my diagnosis. I do not believe ultrasound is entirely accurate. I've spoken with others who have had that come back clear. It was lip biopsy only that confirmed mine xx

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Thanks Joanna36

That's interesting re your diagnoses particularly EDS showing up later. From what I've read there are a number of overlapping symptoms between sjogren's and EDS aren't there. I suppose I am just going to have to toughen up and wait. I hope this 3rd rheumy is willing to stick with me longer than 1 or 2 appointments before getting bored with me! Even the immunologist gave up at 2nd appointment but he was lovely to offer to remain involved a bit longer to case manage things...seeing as I am paying lots for each appointment then why not lol! I am looking fwd to the second neurology appointment. I told him up front I want specialists that are willing to spend the time but he is a public doc so will have to adhere to public criteria for discharge...but at least he will refer me to a decent private neuro if needed. He was really great actually.

So patience is what I need. Why should I be so special as to find my diagnoses in less than 2 years lol! It will be 2 yrs in July...thanks for sharing your experiences. I like reading others experiences as it can be very reassuring or just plain fascinating! 😁

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Hi Jar. Just saw this post. I’m in similar position to Joanna - only I have Sjögren’s, Hashimotos and RA and no formal diagnosis or even mention of EDS to a rheum yet. My skin is thin and velvety and I have appalling stretch marks all over my thighs and belly. I think my mum had EDS and I’ve had organs in odd places, severe constipation and a few of my joints seem very unstable and I think I meet the Beighton score for hypermobity.

The Sicca symptoms of Sjögren’s are mostly quite manageable for me but the small fibre neuropathy is awful and I have significant tremors and related mobility problems. Also severe tinnitus and some hearing loss plus veins that stick right up in backs of hands. I also have autonomic dysfunction.

I’m not sure that I would select EDS as my main priority for discussion with my rheum in 3 weeks time as I think it’s more important to discuss my numbness orthostatic tremor/balance disorder/ ataxia as this is causing me most problems - but perhaps this movement/ balance disorder relates to EDS. It’s hard to know isn’t it? - if only we had a 100% thorough MOT from the onset of symptoms.

My ANA is positive and points to Scleroderma but I don’t have any specific autoantibodies. My inflammatory markers are always high to very high and I’m very autoimmune - always have been.

For me my main priority is retaining some level of mobility and cognitive function and reducing the Sjögren’s fatigue. This means making doctors address the increase in numbness everywhere and high inflammation as a priority.

So my new approach is to try and make these doctors focus on the impact of my symptoms on my daily life and be firm about getting properly investigated for these interrelated conditions so that I can access appropriate support.

All we can do is describe the impact on our lives and hope this stimulates their curiosity and desire to help 🤞🏽😎

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Oh dear twitchytoes I did a nice big reply and it has disappeared..sorry! I might not do it all again but agree re your last statement wholeheartedly xx

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Hi Just noticed this post. I have EDs hyper mobile type (EDHT) I also have sjogrens and have just been diagnosed with hypothyroidism. I haven’t had my antibodies tested so not sure if I have hashimotos but likely because I already have one auto ammune condition. In response to your original question re flare ups. People with Hypermobile joints don’t necessarily realise that their joints are moving beyond the normal range of motion during everyday activity.

For example I have hypermobile knees and ankles. When I walk because the connective tissue surrounding my joints is lax it allows to much movement of the joint, this in turn causes micro trauma to the effected limb/ joint. The following day after activity my hips, knees and ankles will be painful and are often bruised making it difficult to walk again until I recover from the micro trauma. The same issue applies to all the joints in my body. It’s almost as if a switch is flicked internally which tells the connective tissue to loosen because the joints are suddenly more flexible. I was extremely athletic as a child, teenager and up until my 40s I was still very fit played badminton and netball. Strong muscles support the laxity in the joints but as we age and loose muscle mass the joints aren’t so well supported.

You may not be flexible now but were you flexible when you were younger? Also not all EDs people have stretch marks, but they may have stretchy skin. I have had three children and I don’t have a single stretch mark anywhere on my body, because my skin stretched during pregnancy and then bounced right back. My son has stretch marks all over his back and he’s extremely thin and never been over weight. EDs is not just about flexible joints it effects a whole host of body functions, remember connective tissue is everywhere in the body, it’s the glue holding you together, people with EDs are coming unglued 😭

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Thanks rosserk, some great insights you shared. I was def not flexy as a kid. I remember trying to compete with my flexy friends and failing miserably as young as 6 lol! I was never sporty so don't think flexy joints were hidden by string muscles. I was pretty lazy heehee! My joints are more likely to feel stiff upon waking, then feel better with activity, rather than sorer later and there is no sign of wear and tear of my joints. I see the neuro tomorrow so will see what they say. UV exposure is def a trigger for me.

Thanks!

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Sorry I’ve confused you. My joints don’t feel better with exercise they feel damaged and take a long time to recover. I don’t have any damage to my joints just the connective tissue surrounding them. I hope you get the answers your looking for. Good luck 😜

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Thanks rosserk...in waiting room for neuro. Bit nervous lol!

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Hi everyone

I saw my neuro today who was lovely. He said things like 'you are not the problem, it's our testing that is limited' and 'i don't think EDS explains your symptoms' and 'your symptoms are very real' so some nice reassurances!

My autonomic test results, after 9 weeks, were still not available. He has referred me for EMG and I think nerve conduction studies, and I see him again in 6 months. Although he said if any results come thru that are interesting he will call or schedule an earlier appointment. He will refer me for repeat brain MRI in 6 months also.

He bandied about things like possible muscle disease like a metabolic disorders, but he said he feels that neuro issues aren't my main concern and that my picture really points to rheumatological issues. However neuro testing will be of interest to the rheumy. He said an option may be referral to the neuromuscular specialist clinic if any results indicate this or he comes up with nothing.

So all in all I feel I am in good hands. He is purposely leaving appointment's 6 maths apart to see if things progress or new symptoms develop.

He also felt the flare remission nature of my symptoms was more rheumatological.

So there u go...I am glad he is involved and is willing to stick with me! Now I just have to hope this third rheumy is of a similar quality...hope hope hope!!!

Thanks for listening. 😁

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