Symptoms and misdiagnosis

[cbear28]

Hi everyone,

This is going to be a bit of a long one but wondered if anyone else has had similar a similar experience and if my symptoms 'fit' because I feel like i am going in circles.

I have had digestive issues for years (including blood, mucus and undigested movements), which were first diagnosed as ibs, then a couple of years ago as mild crohns. I always have an issues with my blood work as it never seems to show inflammation, so crohns wasn't diagnosed until a colonoscopy was preformed, finding a few ulcers and some inflammation in my digestive track. I have also had ulcers in my mouth cheeks for years which were eventually put down to the fact I am often malnourished (iron and folic especially) due to crohns.

In the past year I seem to have had an onslaught of new symptoms. This includes ulcers on my tongue, down my throat, on my gums and lips. I also have inflammation in my mouth (silivary glands have been mentioned a few times), inflammation and ulcers on my privates, inflammation in my hand and feet joints, with pain in my knees, hair loss, painful and itchy eyes (i am waiting on an eye test for inflammation), worsening fatigue and constant rashes including the erythematosus macular rash on my face. I have low white blood cells, breathlessness (with occasional chest pain) and constant high blood pressure. I have also been hit with every bug and virus going in the past 6 months including lymphatic cellulitis and shingles!

I am now being told they do not believe I have crohns but in fact another autoimmune disease; lupus or bechets being the top two suspects. I am concerned I am going to struggle with a diagnosis as inflammation markers never seem to show in my blood despite being able to visibly see them all over my body (and doctors love a blood test diagnosis).

So my first question is has anyone else experienced negative inflammation markers in their bloods but still got a diagnosis other ways?

Does this sound like it could potentially be lupus? (i know like other autoimmune diseases symptoms can vary from person to person, just curious on your opinions)

Has anyone got crohns (ive been told you can't have both together?) and or bechets alongside lupus?

Has anyone been misdiagnosed with another autoimmune disease prior to a lupus diagnosis?

Thank you for your help

[KayHimm]

Yes to almost everything. Blood tests can be negative despite having symptoms. There are general tests for inflammation and specific tests for autoimmune disease. With inflammation in your GI tract I wouldn’t think you have to « prove » you are ill. But it may just be complicated in your case. Did they say your rash was consistent with lupus? That, I would think, would be very important. I never had the butterfly rash but told my rash was « consistent with connective tissue disease. »

It is very common, as you will hear from others, for these diseases to evolve. By the way, my internist was also a GI specialist, and he thought I may have ulcerative colitis. He only told me after he had ruled it out. So I can understand how confused you are, especially with the ulcers they found.

Try not to worry too much about the lab work. If they know something is inflammatory, they can treat without a specific diagnosis. How did they treat your GI symptoms?

Hope you get on the right track soon.

Kx

[cbear28 in reply to KayHimm]

Thank you for the quick reply

Yes the consultant did say he thinks more lupus than bechets due to the rash and recent infections, though he would need more evidence to diagnose so sent off for xrays and an eye appointment which im still waiting on.

I usually had to fight for treatment on GI symptoms as they would do inflammatory blood tests which would always come back negative so say i'm not in a flare. It isnt until i push for further tests every time such as stool samples they realised i were in a flare. Usually treated with either oral or iv hydrocorsitone. x

[KayHimm in reply to cbear28]

Your results may be different now that you are more symptomatic. Sometimes they use terms like « probable lupus » or « possible connective tissue disease when diagnosis is unclear. So hard on patients, I know.

Hang in there. Your doctors seem very alert to changes and doing everything to properly diagnose and treat you.

[eekt in reply to cbear28]

Have a look at the Lupus UK info on getting a diagnosis: lupusuk.org.uk/diagnosis/

There's a UK guideline for SLE, and Table 6 lists all the tests your doctors should be doing - a lot more than inflammatory markers!

Misdiagnosis is incredibly common, but looks like you're on route and I'm glad you have interim treatment for flares!...be well! xxxx

[cbear28 in reply to eekt]

Thanks for the link eekt. Think this will be very useful! xx

[eekt in reply to cbear28]

Here's hoping you get somewhere very soon! Limboland is no fun at all! xxx

PS the link I forgot: academic.oup.com/rheumatolo...

[cbear28 in reply to eekt]

Thank you so much Lots of interesting reading material

[Hidden]

Hi,

Behcets commonly presents with normal inflammation markers, the fact that you have genital ulcers points towards this as the diagnosis. Inflammatory bowel Disease often goes hand in hand with Behcets. It can also present with Lupus like symptoms and cause a rise in ANA etc due to cross reactions.

The incidence of Behcets in the U.K. is 1 in 250, 000 so it’s very rare making diagnosis difficult.

You don’t say where you live but there are 3 Behcets Centres of Excellence in England, they are centrally funded so don’t cost GP’s anything to make a referral, Dentists can refer as well. If you don’t stay in England then referrals can be more challenging.

behcets.nhs.uk

The bottom line is that the only way you will achieve a diagnosis is going to see a Consultant who is appropriately experienced in diagnosing and treating these disease. Addenbrookes Hospital in Cambridge has a Vasculitis and Lupus clinic ( Behcets is a Vasculitis variant ) headed by Prof David Jayne which is excellent as well. If your current Consultant is struggling to make the diagnosis then they should refer you to someone who can rule it in or out definitively.

I had a 4 year diagnostic odyssey before being diagnosed with a Behcets/ Ankylosing Spondylitis overlap. Lupus was one of the rules outs for me too. My inflammatory markers were only slightly raised. Behcets is a clinical diagnosis made on the basis of symptoms and ruling out mimics.

[eekt in reply to Hidden]

Behcets is the sole autoimmune disease in Scotland that 'merits' a referral to a Centre of Excellence in England! xxx

nsd.scot.nhs.uk/Documents/2... (under Rare Diseases, page 6)

behcets.org.uk/referral-in-...

[Hidden in reply to eekt]

Thanks eekt, that must have changed in the past few years which is very welcome.

I wonder how many patients in Scotland with Behcets know about this?

[eekt in reply to Hidden]

Wonder how many doctors know!...it may have come about through devolved services and the need to delineate which conditions need UK-wide care...the list of illnesses eligible for national care is recent, from last year

There's a good page on the Behcets charity site about Scottish referral...though if undiagnosed and in need of a tertiary specialist, I'm not sure how it works xxx

[Hidden in reply to eekt]

The Scottish Govt convened a Vasculitis Short life working group a few years ago so suspect it stemmed from that. Another of the recommendations was to set up a Vasculitis Managed Clinical Network to try and ensure that patients received the same standard of care treatment regardless of geographical location.

Interested to see that EDS gets a cross border referral as well, including to make a diagnosis.

[eekt in reply to Hidden]

A Managed Clinical Network for lupus was proposed in 2007...

Thanks for that! xxx

Just looked up MCN's and there none for autoimmunity yet

mcns.scot.nhs.uk/types-of-n...

[cbear28 in reply to Hidden]

Hi Tynemouth,

Thank you for the link I will deffo take a read through their website!

I am based in Sheffield. My rheumotologist did mention a specialist in Liverpool for bechets however only if I have unexplained inflammation in my blood work. This is whats concerning me most. If lupus is negative and theirs no sign of inflammation in bloods like usual then I will hit a brick wall again with no diagnosis, despite all my symptoms you can physically see

Does anyone know if its possible to get an appointment with these bechets specialists without a referal from doctors? Could I contact them and book an appointment if I get no where with my consultant?

[Hidden in reply to cbear28]

Hi,

You need a referral but it doesn’t need to come from your Consultant, your GP or dentist can do it.

No one will care about your health more than you do, sometimes we really need to push to get the care and treatment we need. It can be helpful to do the following, ask your Consultant for a referral to the Liverpool Behcets Centre of Excellence which is headed by Prof Robert Moots. If they refuse ask them to document your request in your notes and the reason for their refusal, also in their letter to your GP.

I would also ask them what experience they have in diagnosing and treating Behcets and to show you the evidence that says Behcets always presents with raised inflammatory markers. You have the right to record medical consultations as well.

If they still won’t refer you then cut your losses, ask your GP ( it doesn’t cost them anything as it’s nationally funded ). Asking for everything to be documented in your notes provides a record of the conversation so you can prove it happened.

Unfortunately some medical staff don’t like to admit that they sometimes need help, your only consideration should be your care and treatment, not their feelings.

[Hidden in reply to Hidden]

Link to an information sheet on Behcets on the Vasculitis UK website written by Prof Moots. It states quite clearly that inflammatory markers are often not raised.

vasculitis.org.uk/about-vas...

[cbear28 in reply to Hidden]

Thank you for all your help Tynemouth. I will have a read

[Wee1kirby]

I’m not sure about Bechets I’m afraid but my symptoms started off about a year ago. I had always had well managed ibs and all of a sudden it was awful, I was having to go to toilet several times a morning, afternoon etc. It was frequently urgent and sometimes I felt need to go even when I didn’t actually need. I was convinced it was IBD and after being briefly given antidepressants to see if it was anxiety linked, which made my stomach so much worse, went private to see a gastroenterologist because I was dismissed on the NHS. Well my colonoscopy was normal so that meant no crohns/colitis, and way down the line when my symptoms progressed to extreme tiredness, discolouration of fingers in cold weather, face rashes (like the butterfly but not over bridge of nose), terrible joint pain etc, I have been given a differential diagnosis of either mild lupus (no organ involvement known about) or fibromyalgia. I’m taking Hydroxychloroquine now and already noticing a difference (although today has been a bad day so far!) and fairly certain it is lupus rather than fibromyalgia. I mention all this as overwhelmingly the gastro symptoms for me came first and were also the worst to live with (I would actually still say they are the most difficult). I can’t use public transport etc because my stomach is so unpredictable and I’m trying to build some confidence up in eating again. I do believe the swollen joints etc can be crohns too though? Maybe ask them to test your ANA (mine is weakly positive) and see if that indicates anything. I hope you find some joy soon, it’s terrible to put up with these things with no relief.

[cbear28 in reply to Wee1kirby]

Hi Wee1kirby,

Sorry to hear you have been having a rough times as well it sucks doesnt it.

You sound very similar to me, with the gi issues being the first symptoms. I had the crohns under control so much so I decided to do a bit of travelling for a few months. They think the exposure to so much sun has set off these new symptoms (hence lupus being the prime suspect).

I have actually found my stomach has improved no end by following diet tips off the official crohn's website. I follow a edited Mediterranean diet (lots of fish, chicken, low fibre fruit and veg, rice etc.) I also take ginger, tumeric and cinnamon every morning which help settle my stomach for the day. Marshmellows also help as odd as it sounds. Not sure how much of this you're aware off but both me and a close friend (who has microscopic crohns) have seen improvements since trying it, so could be worth trying if it helps you?

Yes there seems to be a cross over of symptoms in all autoimmune diseases which is why i'm a bit confused its now not crohns but another autoimmune disease as though I cannot have both.

I had an insane amount of tests done just under a month ago including every lupus and artirtis test (bloods and x-rays) but I am still waiting for results. Since then I have received a letter from the hospital for eye inflammation tests, so atm I'm just a bit out of the loop of whats actually going on lol.

[KayHimm]

Tyemouth has given you great information. I learned a lot myself — had no idea that Behcet’s disease was so elusive. My sense is your rheumatologist is very up on things. The fact that he already mentioned you to a specialist reflects his concern and determination. He may have meant if he cannot diagnosis lupus or another connective tissue disease, he will refer you to a Behcet’s specialist. With all of your objective signs, I really don’t think you will be ignored because of negative blood tests.

K

[cbear28 in reply to KayHimm]

Thanks KayHimm,

Every one has been amazing on this forum defiantly wasn't expecting so many fantastic and informative responses.

He is the best consultant I have seen (seems generally concerned and obviously trying to be througher). I just have a lot of experience over the years with consultants deciding there's actually nothing wrong, its in my head, stress etc just because my bloods never show anything, so panicking he will turn out the same and I will be left in limbo trying to struggle by myself yet again, especially now im being told I don't have crohns. Almost feels like I'm going backwards.

[KayHimm in reply to cbear28]

It is almost a trauma unto itself to not have an explanation for how we feel. It sounds like you are an complicated case. I don’t see the “not Crohn’s as going backward, more that they suspect an over-all disease that is affecting your colon. An example would be a young woman may first be diagnosed with pleurisy, which later turns out to be only one part of her lupus or rheumatoid arthritis or something else. It is not an incorrect diagnosis as much as a first and early diagnosis. That is how I see it. Others may have a different take.

Try to focus on the fact that your rheumatologist has trained for a long time to make these diagnoses. It is very hard. But he is clearly engaged. Think of yourself as a challenge. Rheumatologists are called the detectives of last resort. But even they have challenges like you!

K

[nanleighh]

Hi cbear, I don’t know if this will be any help to you, but after working in the OB/GYN field for the better part of 40 years as a nurse, the only autoimmune disease that that I have seen that causes ulcers in your private areas is Bechets syndrome. I hope they get a diagnosis for you soon, because I know just not knowing is so very hard. Have they done any blood work that is showing Lupus such as positive ANA and any other of the autoantibodies? Take care, Nan

[cbear28 in reply to nanleighh]

Hi nan,

Thank you for your reply.

I were originally referred to a gyno by a nurse doing my smear after she saw inflammation and scars from previous sores/ ulcers. The gyno suspected bechets so referred me to rheumatology who suspects more lupus but said he will still look into bechets if lupus tests are negative.

It were the cellulitis and shingles, sensitivity to sun and butterfly rash that he said stood out. Is it possible I could have both as I do seem to have a cross over of symptoms? Or are those mentioned above possible bechet symptoms as well?

[nanleighh]

Hi cbear, It is possible to have crossover autoimmune disease. For instance many with lupus including myself have Sjögrens disease along with lupus. Others have RA and lupus. I have never heard of lupus and bechets, but I’m sure it’s possible. The weird thing too is many of the symptoms are similar in the different autoimmune diseases. But almost all of them have severe fatigue. I hope you get it all sorted out. It’s not fun not knowing. You really seem to be on top of it though. Keep us posted on how you are doing❣️Nan

[cbear28 in reply to nanleighh]

Thanks for all the info nan. I certainly will do

[Carol321]

Hi cbear Has anyone suggested when your rash is up on your face have a biopsy? This is what happened to my daughter at 17years old and from this her diagnosis came pretty quickly I also have raised a granddaughter since age 13years we were back and forward to doctors in and out of hospital to be told IBS but every woman in my family has an autoimmune disorder and I always felt although they said nothing was showing up that there was something Last week a doctor looked at her history and has referred my granddaughter to be seen he believes she may have CREST syndrome a very rare illness she is now 26 years old my hope for you is you find out what can give you some peace of mind and the proper relief living in limbo is so much to deal with in itself warmest wishes x

[cbear28 in reply to Carol321]

Hi Carol,

Thanky ou for your response. I wasnt aware you could take biopsys of rashes so i will defiantly enquire if bloods reveal nothing, thank you.

Really sorry to hear your grand daughter has been struggling with a diagnosis so long, and hope she gets an answer soon.

Personally, i don't think ibs is a real thing, its just a label doctors give when they're not sure of the real problem. I know so many people who have been told they have ibs but then it turns out to be related to something else. x

[cbear28]

Hi everyone

Just thought I would give everyone an update.

Got some of my results back. Believe it or not for the first time all inflammation blood tests have come back elevated (at least double what they should be- doc is concerned they're high esp as they don't usually show). The x-rays have shown bones are ok however the inflammation is in the soft tissue of my joints. Vitamin levels low (esp iron again). One vasculitis test came back mildly positive the other negative- apparently both have to be positive.

Unfortunately they didn't take enough blood so didn't get to complete all tests they wanted to (including lupus) so having to go back to hospital so they can continue tests. Especially now they have not just physical symptoms but positive blood work/results.

Bechets and lupus are still the main two suspects so I have the eye test I mentioned and also waiting on an appointment for a skin prick test. Also talks of him teaming me with one of his gastros to have camera down the throat and also colonoscopy to get to the bottom (no pun intended) of the inflammation in digestive track as well, though this will depend on other results.