Should I give up pursuing a diagnosis?

[OliveRanch]

I’m 32 and have been struggling with fatigue and a number of other symptoms for the past 18 months. After several years of pain I was diagnosed with endometriosis via a laparoscopy at the beginning of the year. I was hopeful that my other symptoms might lift once I recovered from the op but unfortunately things only seem to be getting worse. NB I have never had Covid.

Recently I have started to experience joint pain, throbbing and stiffness in my hands, feet and hips. Sometimes I feel fluey and have generalised muscle aches, so check my temp thinking I have Covid and find I have a fever, but Covid tests have all been negative. I also suffer from hot flushes (negative for menopause), transient night sweats, allergic rhinitis, patches of dry skin and dry eyes. I suffer from an unusual and chronic skin rash called erythema annulare centrifugum which is associated with autoimmune disease and other underlying conditions.

I’ve seen my GP about this a few times but haven’t really got anywhere. My FBC results are OK, no deficiencies. MHC usually elevated for some reason but the dr said this isn’t anything to worry about. Thyroid results fine. POTS test negative. ANA negative (which seems to rule out lupus), intrinsic factor negative (rules out pernicious anaemia). As far as I’m aware I haven’t had rheumatoid factor checked, not sure if anything else would be relevant.

Ultimately they’ve just put it down to a combination of my history of trauma and endometriosis, but I’m not convinced. I feel so physically awful and don’t have the energy to do anything, even the things I love to do. My dad had two autoimmune conditions and I wonder if I too might be developing one, but I’m afraid to go back to the GP in case they write me off with health anxiety.

I guess my question is, how long is reasonable to keep pursuing a diagnosis? I don’t want to waste any more of the GP’s time but equally the thought of continuing to live like this with no explanation makes me feel so sad. I am currently studying in a medical field but wondering how I’m ever going to keep up with the pace once I qualify.

You need a ref to rheumatology and at the minimum a ct scan plus further investigation - I have negative ana but a form of vasculitis with additional skin probs that was only picked up via a ct

You need referring. Ask for this.

Friend in very similar situation got referred to rheumatologist and all became clear very quickly - she is now on treatment and beginning to improve.

I’d like a referral to rheumatology but I’m worried I’m taking the piss a bit. The last time I spoke to the GP about this they referred me to a sleep clinic (to see if poor sleep is the cause of the fatigue) and dermatology (to further investigate the rash). Plus I’m already under gynaecology and gastroenterology. Would it be reasonable to ask for rheumatology on top of all this? I feel like they’re looking at the symptoms individually instead of considering the whole picture.

Definitely ask for a referral. I have several autoimmune conditions (including psoriatic arthritis) and lots of your symptoms sound very similar to mine. Not saying that it is PsA but it definitely sounds like an immune system gone wrong.

Only a rheumatologist can help and even that can take time. When I was first referred they were able to tell me that I didn’t have Lupus which I had been referred for, but that they felt strongly enough that something was wrong that they would keep bringing me back every 6 months. It was finally an intern who figured it out my main condition. sometimes their job is a bit like being a detective and finding a clue that just gives them a eureka moment.

OP, has your GP tested your ferritin levels in your blood?
I've had a similar experience in getting a diagnosis for my previous fatigue and I was referred to a number of different departments: cardiology, neurology, rheumatology and because of the digestive problems I was experiencing I also ended up in gastroenterology! Please don't feel you're wasting time or resources because you have to live with feeling so rubbish.

In short I was eventually diagnosed with hereditary coronary artery disease and put on the relevant meds for that which really helped, but late last year I started feeling fatigued again. I was born with anaemia so I have 3 monthly B12 injections but on my FBC it showed that I was still anaemic so my ferrous level was tested and it was 9 (should be 22).
I'm now on ferrous fumarate indefinitely and my quality of life has greatly improved.

It's frustrating that we are not treated holistically but this is how things are. I know how it feels to have zero energy but please don't give up - there IS a reason for this.

Sending you lots of love and support

Do you mean MCH elevated? Have your B12/Folate been tested? They're not included in a FBC, it's a separate blood test

A negative Intrinsic Factor result doesn't rule out PA unfortunately, the test is not accurate enough

It's worth having a read through this page and it's links

pernicious-anaemia-society.org/diagnosis/

Thank you for sharing your experience. I’m glad you’ve been able to get to the bottom of it and your quality of life has improved.

Ferritin wasn’t mentioned on my most recent comprehensive test (a year ago). I’ll attach a pic of the results if it will let me…

Whoops, yes, MCH… I’ve had MHC molecules on the brain

My B12/folate levels seemed OK from my test a year ago although folate was at the lower end of the range. I’ll attach the results if I can…

I forgot to mention that I’ve been taking B complex spray, iron spray and vit d spray for about a year now in the hope it would help but it doesn’t seem to have made a difference.

My mother never did get a firm diagnosis despite being seen for 15 years by endocrinologist, haematologist. She was referred to specialist centres to see some of the countries top specialist in the last few years. They knew it was some form of autoimmune disorder but it never fitted any exactly. The closest was one of the rare NORD diseases. (Can’t say as incredibly outing). Maybe take a look on NORD site. Unfortunately if NORD disease it is unlikely any research or cure will ever be found- simply not enough cases to make it profitable for pharma companies or even enough patients for good double blind studies.

she had sweats, rashes, palpitations, and gradually found moving harder. But the treatment was as bad as the disease given it was high steroid doses for years. All the side effects ate away at her quality of life further.

after she died she had full autopsy and we even agreed to donate some of her organs for further study. They never did find out what her disease was.

sorry to be bearer of potentially bad news. You may simply never find out wit these sort of illnesses. But research on common ones is progressing so keep pushing, keep pestering. All too often steroids are given out as nothing else they can do, but they aren’t great..so keep escalating and getting better referrals to specialist.

I agree that a rheumatology referral is reasonable. Although they are dealing with joints by the nature of the job, as so many of the inflammatory arthritis conditions are systemic in nature, they are accustomed to needing to look at "the whole picture" more than some specialties. Hope you can get some answers,, but most of all some advice or treatment that leads to real improvements for you.

It is possible to get a diagnosis of a Rare disease, I'm sorry your Mum didn't @Headbandheart - mine is a roughly 1 in 40 million - there's two of us known about in the uk currently, it depends on how much a rheum is willing to look imo

Op you can be under as many department at the hospital as you need - please push for a referral, if you see one of the others, it may be worth asking if they will refer also, particularly derm with rash as It could be autoimmune rather than just a skin complaint

I’m glad to hear you got a diagnosis but sorry to hear you are dealing with that. I didn’t say NORDs were impossible to diagnose- just that some people simply never fit any particular diagnosis- it seems that these autoimmune/endo conditions have so many variants that some people will never get a single label of diagnosis- more that their symptoms best fit this one and maybe a bit of that.
so much out there we simply dont know how the body works.

Were you taking it at the time your B12 was tested?

I was taking b12 spray I believe but not the b complex at that point.

@OliveRanch Supplementing B12 in any form will mean a false high result on the blood test as it doesn't differentiate between active and inactive B12, or how well/poorly your body can absorb and use it. You most likely need B12 injections and very regularly at this stage. Please don't give up, B12 deficiency is actually very serious if left untreated

I have endometriosis, I get very fatigued when my symptoms flare up (I’m on the pill now and my symptoms and energy levels are so much higher), I also get a lot of aches and pains and night sweats, so maybe it is just the endometriosis and the skin issues are not related?

Do you have the fatigue/joint pain/night sweats etc when you’re not having a flare-up though? Mine is constant regardless of whether I’m having an endo flare or not. I had excision surgery earlier this year and have the mirena coil but it hasn’t made any difference, other than helping the endo pain and GI symptoms.

I don’t have periods any more thankfully so no, but when I had periods looking bad I did feel fatigued and had aches and pains most of the time, it was much worse when I had a flare up, I used to have really bad night sweats and was exhausted during my periods and very bad IBS type symptoms. I thought I had cancer at one point (and so did my GP) as I was so exhausted and waking up soaked in sweat during the night, plus permanently bloated. Thankfully it was just the endo.

Your inflammation levels are chronically high with endometriosis which can cause a variety of symptoms, my blood tests would always show high levels of inflammation even when my symptoms weren’t that bad (ESR and CRP always high). I think it depends on how severe the endometriosis is as well, mine was stage 2 when I had my lap 6 years ago. I imagine it’s even worse with stage 3 or 4.

Signs of chronic inflammation can include:

Abdominal pain.
Chest pain.
Fatigue. (example: systemic lupus)
Fever. (example: tuberculosis)
Joint pain or stiffness. (example: rheumatoid arthritis)
Mouth sores. (example: HIV infection)
Skin rash. (example: psoriasis)

my.clevelandclinic.org/health/symptoms/21660-inflammation

Endometriosis causes chronic inflammation, so I genuinely think it may just be the endo.

@OliveRanch As @kingsleysbootlicker pointed out the ferritin blood test is separate to the FBC.
I had a B12 injection the week before my FBC and my HB was still low because B12 isn't the same as ferritin.

It's been 14 years trying to get my quality of life back so please do persevere.

How could I get b12 injections when my b12 levels and intrinsic factor are normal though? I had low b12 years ago (combined with elevated MCH) and they put me on b12 tablets so I thought pernicious anaemia was plausible, but they haven’t been able to find any clinical signs of it recently.

I have booked an appointment for this morning after doing an e consult describing the joint pain and also requested a rheumatology referral. Hoping they’ll take me seriously…