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Autoimmune disease

Is this a connective tissue disease?

6 replies

choirmumoftwo · 13/07/2022 01:03

Sorry this may be long!
Dd has had various health issues going back to age 11 or so when she had a reactive arthritis (knee) after a bout of tonsillitis. She had a positive ANA at that time.
Since then and now aged 20, she's had persistent joint pain with intermittent swelling in one knee, an episode of Bell's Palsy, diagnosed coeliac, Raynauds, persistent migraine diagnosed by a neurologist but without any investigations (on a hefty dose of nortriptylline but still gets breakthrough pain) and widespread livido reticularis on her arms and legs.
Despite all this and often feeling unwell and fatigued, she has a full life and is a student living away from home.
Last bloods showed negative antibodies but low white cell count and neutrophils.
She feels her GP dismisses her symptoms but as a recently retired rheumatology nurse, I'm concerned there's more going on and she's so young. Equally, I don't want to assume something where there's nothing.
Any thoughts or similar experiences? Is it worth seeing a rheumatologist privately?

OP posts:
ZealAndArdour · 13/07/2022 01:04

Definitely worth seeing a rheumatologist privately.

LairyMcClairy · 13/07/2022 04:59

I agree with seeing a private rheumatologist. So difficult to diagnose some autoimmunity and connective tissue disease is often overlooked on the nhs. Though her symptoms are very mixed and not all necessarily consistent with it so a private rheum will spend the time and do more thorough diagnostics.

galvanizethis · 13/07/2022 05:04

Do you know with her ANA results which pattern she had? Was it speckled?

choirmumoftwo · 13/07/2022 11:46

It was speckled but quite low titre at 1:80 at the time.
I've wondered about scleroderma for a while but it's her health and she's an adult now.
I think it's worth a referral,

OP posts:
CherryRipe1 · 13/07/2022 12:10

I would definitely be pushing the GP to see a rheumatologist AND looking at private in the meantime. As a rheumy nurse you will know the rheumatologist does alot more in depth tests for CTDs/ autoimmune issues. What antibodies was your DD negative to? Did she have tests for lupus anti ds-dna, rheumatoid factor, anti CCP, Sjogrens anti Ro/La? My titer fluctuates. Was DD's speckled or fine speckled? There's sero negative RA too. You will probably know autoimmune conditions can be very hard to diagnose with mimics and overlaps. I don't know that much about scleroderma other than the skin version makes the skin tight & tethered. Sorry to hear your daughter is unwell, brilliant that she's managing to get on with life! Good luck

Galvanisethis · 15/07/2022 00:31

choirmumoftwo · 13/07/2022 11:46

It was speckled but quite low titre at 1:80 at the time.
I've wondered about scleroderma for a while but it's her health and she's an adult now.
I think it's worth a referral,

It all sounds quite similar to me but have yet not have a diagnosis. My initial flare up happened in my mid 30's after having many odd complaints and symptoms over the years. The Rheumatologist suspected Scleroderma due to blood results and symptoms but was hesitant to diagnose it until more symptoms appeared. Fortunately, I fell pregnant and it seemed to suppress everything. I ended up having two healthy pregnancies and haven't had a full flare up since. I do still have some strange skin patches and pain in my hands. Massive fatigue some days and dry eyes but otherwise, I am great. I can live a normal life.
I found getting enough rest, drinking plenty of water and no alcohol has helped. Good luck with everything. She's lucky that you're her mum and experienced with autoimmune diseases.

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