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Autoimmune disease

It's a long shot, but is anyone here a rheumatologist?

35 replies

BlackInk · 28/03/2021 19:02

It's a long shot, but is anyone here a rheumatologist?

I feel I have a strong case for being diagnosed with an autoimmune disease (possibly lupus) but have been totally dismissed by GP and after one appointment with a rheumatologist.

I'm not asking for a free consultation, or anything. Would just like to know whether I'm barking up the wrong tree. I feel totally lost as to where to go from here, but can't go on as I am.

Thank you!

OP posts:
Hercules12 · 28/03/2021 19:13

I'm not a rheumatologist. Can you see one privately?

BlackInk · 29/03/2021 10:04

Hi @Hercules12 thanks for replying.
I paid for a one-off rheumatology appointment, and chose one that sees NHS patients as well as private ones. It cost me £300. She had a cursory look at my skin and finger joints, asked me a couple of questions and ordered some blood tests. I was in and out within 10 minutes and there's no way I can afford to pay again.
One of the test results (C4) came back abnormal (and I've had various abnormal results through the GP), but she said the result didn't mean anything.
I just don't know where to go from here. I'm starting to feel like I'm actually going mad, imagining it all...

OP posts:
somewheresorted · 29/03/2021 11:18

Hi Blackink - have you tried joining the Lupus UK group on Health Unlocked? They’re a wealth of information and there are many questions like yours as it seems it can take many years for a diagnosis of Lupus to be made in some cases.

Throwntothewolves · 29/03/2021 11:40

Keep pursuing your concerns through your GP, don't let them fob you off. Even if it's not Lupus they should be properly investigating the cause of your symptoms

Hercules12 · 29/03/2021 18:32

When you say skin- do you mean possible psoriasis? I have seronegative inflammatory arthritis- probably psoriatic arthritis but bloods all fine as is case for 50% of psoriatic arthritis. I don't have any skin issues either. I was dismissed by gp after xrays and bloods fine but I insisted on referral to early arthritis clinic where I was seen by rheumatologist who is knowledgeable about psoriatic arthritis and diagnosed on first visit.

CovidCorvid · 29/03/2021 18:38

Just reading as interested. Adult Dd thinks she has lupus.....she has a few other auto immune conditions. However her blood test was negative.....is that AMA? But a friend has lupus and says it’s possible to have it with a negative blood test.

BlackInk · 30/03/2021 18:10

Thanks all, my GP has pretty much closed the door on me and I can't afford to go private, so I'm (desperately) exploring other ways forward!

ANA is one of the first line blood tests that can indicate Lupus. Mine was positive, but GP just said that can be normal.

My skin is pretty much ok. Very dry and stiff and a bit itchy and rashy but nothing much to see most of the time. My arthritis is pretty constant, doesn't flare and no swelling as such just knobbly, painful, stiff joints.

I just don't understand why my GP won't refer me. I have a ton of symptoms of something, and various abnormal and borderline blood results...

I hope you all get your answers x

OP posts:
CovidCorvid · 30/03/2021 18:45

Is there a different gp in the practice you can try, even change practice?

Redannie118 · 04/04/2021 15:01

I dont know if you are still about OP, but I have Scleroderma, a very similar disease to Lupus and as its a rare disease ive done a lot of research over the years and pushed for treatment and diagnosis. Could you please list your symptoms?

BlackInk · 04/04/2021 17:06

Hi @Redannie118

Yep, I'm still here, still getting nowhere.

I have tons of symptoms, some of them pretty minor in themselves, but all together making me pretty miserable.

I think Scleroderma is fairly unlikely as I don't have much in the way of skin problems. My skin is VERY dry and stiff and breaks easily. A bit itchy but not really rashy. I sometimes get a rash on my chest or under my eyes. Get a reaction to sunlight anywhere exposed on hot, sunny days.

My eyes are a bit dry and scratchy but not seriously. Lots of blurred vision though.

Other symptoms are stomach trouble, headaches and eye ache, dizziness/disorientation, joint pain and stiffness... and other stuff.

I've got a hiatus hernia, confirmed arthritis in my hands, positive ANA, low C4, B12 deficiency, low morning cortisol, low ferritin and on/off signs of anaemia in FBC.

Trouble getting/staying pregnant, and sudden complete early menopause.

Strong close family history of autoimmune diseases.

Think that's about it... I'm an absolute wreck :(

OP posts:
Redannie118 · 04/04/2021 20:06

Ok so your post has flagged up a few things. You have a lot of Scleroderma and Lupus markers. Funnily enough Scleroderma doesnt always mean a lot of skin involvement. I have tight skin on my hands and feet and thats it. My other symptoms are all internal, so joint pain, bent swollen fingers, problems swollowing, GERD, toilet issues, bleeding in the stomach causing anemia( GAVE disease)Raynauds phenomena, dry itchy eyes and painful sinus and ground glass inflammation in lungs. It takes approx 7 years for an accurate AI diagnosis as so many symptoms overlap. You may have MCTD disease( a mixture of Auto immunes with non presenting stronger than another) or something like Lupus with a Scleroderma or Sjogrens overlap. Either way you need an accurate diagnosis and only a good Rhuemy can do that. If your GP wont refer you( and they should!) Get a second opinion. You dont need to pay, any GP would do. Then look at the area you live in for a good centre of excellence. If you are in the south the London Royal Free is the flagship, the best there is. Prof Denton is the guy you need to see, I may be wrong but I believe he sees private patients as well as NHS. Im in the North East and I go to the Freeman hospital and care is excellent. If I can give you ANY advice, its be your own advocate. Write down all your symptoms( even things you think are not remotely connected) state family history. Join an online community like Health unlocked who are bloody amazing. And push. Be a total PITA. Many doctors( even good rhuemys) are CLUELESS,about more rare or complicated auto immune diseases and will fob you off unless they think you know what you are talking about. I really hope you get answers. Im happy for youto DM if you need. X

BlackInk · 06/04/2021 11:58

Thank you @Redannie118 .
I don't think I'm likely to get anywhere with the GPs at my practice. They already think I'm a serious PITA. It's just frustrating that they see me as a hypochondriac when, until the past few years, I literally never bothered them. Have never had antibiotics as an adult, and I rarely take my children either. I think my only course of action would be to try a new GP practice, but am worried that my current GP will send my notes along with HYPOCHONDRIAC scrawled on them! It doesn't help that the only two GP practices where I live are in the same building. It was especially disheartening that the rheumatologist I saw privately was also dismissive. Really makes me doubt myself!

OP posts:
jessstan2 · 06/04/2021 12:00

You can request a second opinion, that is your right.

Good luck.

BlackInk · 06/04/2021 13:29

A second opinion from the GP or the rheumatologist?

I've seen a few doctors at my GP surgery and al they've done is check with my original/main doctor and gone with what he says. He even ticked me off for seeing different doctors (at the same practice) because it wasted their time having to read through my medical history.

Am I allowed to request to see a GP at another practice for a second opinion, or would I have to reregister?

I don't think I could get a second opinion with a rheumatologist as I saw them privately (hoping to get referred back into the NHS) and really can't afford to pay again.

I feel totally stuck. Like I just have to put up with all this until it destroys me...

OP posts:
jessstan2 · 06/04/2021 13:35

I was going to suggest the rheumatologist; find a rheumatologist who specialises in Lupus and take it from there.

jessstan2 · 06/04/2021 13:37

I'm sorry you can't afford to pay for a consultation again and do quite understand; however you may find someone who will refer you to their NHS clinic following initial consultation so it might be worth stretching your purse a bit.

www.lupusuk.org.uk/centres-of-excellence/

Shezlon · 06/04/2021 13:39

I'm also not a rheumatologist but I have a couple of autoimmune conditions myself and am well acquainted with the struggle to get taken seriously.
If you know you have b12 deficiency, has that been further investigated? Are you getting sufficient treatment for that?
What about the low cortisol - isn't that a sign of Addison's disease (I remember being tested for that but mine was ok)? I think it sounds like you need a referral to an endocrinologist or a haematologist to look into the blood results further.

TaraR2020 · 06/04/2021 13:47

I really feel for you but I think you might need to play a longer game here and treat your deficiencies first.

Many of the symptoms you describe can be attributed to the deficiencies- I've experienced a number of them myself!

Low vit d for example can trigger a heightened immune response so could well explain your allergic reactivity to things such as light rash, joint pain and stiffness and slow skin healing
Low iron is also a common cause of a variety of symptoms that can make life miserable.

Have you seen an optician? If not then this needs to be your first port of call for the eye issues and also headaches, which could be eye strain. Blurred vision also points to an eyesight issue.

An optician will also be able to check for signs of any common eye conditions that cause itchiness and dryness, such as blepharitis, which is treatable.

If you'd like to start a family then I would also pursue this with your gp as a separate issue as the tests run into infertility and difficulty in conceiving, etc, may also indicate if there's an underlying issue you haven't identified yet.

I really do sympathise because I have suffered with many of the symptoms you describe and altogether they really do impact quality of life, however they may well have an innocuous explanation thats easily remedied.

Work with your gp to treat the deficiencies and other flags from your blood tests and see how you get on.
If the problem still continues when they've exhausted more typical avenues, they may well be more inclined to review the situation.

At the end of the day, as well, its much better to not have an autoimmune disease so if there's a more innocent cause for the way you feel then that's a win :)


You are, of course, entitled to ask for second opinions but I wouldn't be surprised if new doctors wish to rule out other more likely conditions first - its part of the diagnostic procedure.

Flowers

TheVanguardSix · 06/04/2021 13:49

Hi OP! I have what is called incomplete Lupus.
I test positive, then negative, then positive and my Lupus is mild, unlike my father who had guns-a-blazing Lupus in all its dastardly glory.
Your ANA is positive plus you have all of those other abnormal results. It is, quite frankly, insane that your GP has not referred you to a rheumatologist.
You can reregister at another practice, but is there not another GP at your current practice you can speak with?
At this point, I'd write to your actual GP and request the referral or threaten to complain. DH is a GP. And honestly, with that positive ANA and no action on your GP's part, you have a case for complaining. I know it's not nice to threaten a complaint, but your GP MUST refer you.
I mean, heavens above, your results are all over the place... they are completely abnormal and scream Lupus from where I'm sitting (or possibly another autoimmune disorder). The point is, you absolutely need to be managed. Your health is being neglected by your GP.
To be honest, in your shoes, I'd change GPs. But this takes a bit of time. Push hard with your current practice to refer.

TheVanguardSix · 06/04/2021 14:01

TaraR2020

But she's got a positive ANA. That's a game-changer.

l2b2 · 06/04/2021 14:02

What reason has your GP given you for not referring you to rheumatology, when you have a +ve ANA and all those symptoms?

Unless your GP is on the specialist list for rheumatology, I don't understand why this hasn't been done. It's disgusting that you've had to pay for a private consultation.

TheVanguardSix · 06/04/2021 14:05

And just to add, OP, I did not have to 'play a longer game' when it came to getting a referral after receiving a positive ANA alongside having multiple symptoms. I had a quick referral to rheumatology and a quick diagnosis. I didn't have to sit around with my symptoms. You can certainly have a family. But this needs to be actively managed and supported if you have Lupus or any other autoimmune disorder. All the more reason to push hard for that referral and not play the longer game with your GP (silly advice... sorry Tara but it really is silly advice).

TaraR2020 · 06/04/2021 14:05

@TheVanguardSix
I have to give way to your superior knowledge here :) I'm fairly good with autoimmunity, having a few conditions myself but not so informed with lupus.

Surely though, treating the deficiencies will help ease symptoms even with an underlying cause and therefore no harm in doing so whole pursuing a lupus dx?

HoneysuckIejasmine · 06/04/2021 14:08

It does sound like something! Has your GP tested your CRP?

The first GP I saw dismissed me and told me to "come back when it really hurts". It wasn't until I was at uni that the GP took me seriously and ordered some bloods - straight to the rheumatology department! Tbh I get that it was unusual - mid teens, white, no externally visible signs - but it was still very upsetting to be dismissed like that.

CoffeethenCrochet · 06/04/2021 14:13

How low was your morning cortisol level? It may be you need to look at Addison's disease. A lot of your symptoms could be linked to that. Good luck Flowers

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