Thoughts and Help

Hello all! I am new here. I know this is a lupus / autoimmune group, but before joining I noticed some helpful posts for other conditions, so I am hoping I can find some advice here. I have been dealing with declining health for a few years now, but have not received any diagnoses. I do have a positive ANA (1280, homogenous) last time it was checked, but as all other blood works comes back normal, we have stopped chasing autoimmune diseases (at least for now). I have been tested for Lupus, Sjogren’s, and MS (and I am sure other autoimmune diseases). One antibody for Sjogren’s came back slightly positive one time, but then immediately came back down. That has been about 2 years ago now. Despite blood tests not yielding any information, I do still deal with a lot. I am quite young (26) and I see how friends and peers are able to do much more than me. I have another appointment coming up in a couple of weeks, so I decided to hop on here to see if anyone has any thoughts, suggestions on what to share during my next appointment, really anything. =)

My symptoms include:

Temperature intolerance

Neuropathy in face, arms, and legs

Muscle weakness and fatigue

Poor fine motor skills

Joint pain, especially at night

Gluten intolerance

Fatigue

Dry eyes

Brain fog

GI issues

Low appetite

Headaches

Elevated heart rate upon standing (30 to 70 bpm higher when going from standing to sitting, only lasts 15 to 30 seconds)

Sustained elevated heart rate during simple activities (like folding laundry is usually around 130 to 145 bpm)

Heart arrhythmias (can often be too high or too low)

Exercise intolerance

Joint hypermobility (I believe I would get a 5/9 on the Beighton score, but I’ve only tested at home)

Premature stretch marks (I had them by like age 12 or 13)

Easy bruising (not often, but it doesn’t take much for me to bruise)

Urinary incontinence

Insomnia

Desire to constantly lean against things when standing, inability to stand for long, I always sit with my legs up

Hand tremors

Leg stiffness

Poor stamina

Mildly stretchy skin (in certain areas)

Etc

If anyone sees anything they would like to point, any notes to make, I would greatly appreciate it. I am honestly not sure where to go from here. HSD, hEDS, and dysautonomia are some things I have researched lately.

[OldTed60]

with this collection of symptoms and a highly positive ANA, I’d be thinking of EDS and Sjogrens/Lupus/ systemic autoimmune disease too. If your specific antibodies are normal then a rheumatologist might diagnose you with undifferentiated connective tissue disease but you can be seronegative for Sjogren’s as I am and 30% of sufferers are. Mine was diagnosed by similar symptoms, ANA and lip biopsy. I now carry specific scleroderma antibody and systemic sclerosis was confirmed by an expert rheumatologist earlier this year along with EDS - which he said had been masking the skin tightening. Still waiting for genetic testing for subtype. I am near 61 but certainly recognise the needing to lean or perch on nearby props and other signs and symptoms of Sjogren’s and EDS. Definitely worth pushing for referral but try and find a rheumatologist who specialises in Sjogrens and Lupus if you can. Best of luck 😊

[Hidden in reply to OldTed60]

Hi! Those are the lines I am thinking along also. Hypermobile Ehlers Danlos Syndrome, Hypermobility Spectrum Disorder, something dysautonomia, and/or something autoimmune have been what I research most often. I haven’t had my ANA tested for some time, but it always came back as greater than or equal to 1280 in the past. This is very helpful, I can see some good information to share from what you told me. Thank you!

[OldTed60 in reply to Hidden]

Hi again. Reading other replies here - all seem helpful for you to pursue so I’m glad. But just to add that HSD/ EDS and POTS aren’t taken that seriously by many doctors compared to systemic autoimmune diseases as there is not treatment barring the obvious - and it’s obviously very useful to have these on your notes if you need emergency hospital admissions or surgery etc. So if it were me then I'd want to get to bottom of your high ANA and related symptoms more pressingly as autoimmune disease tend to progress if left untreated where EDS doesn’t. If you can get to a good Sjogren’s or Lupus specialist then they may be able to run more specific tests. Just a thought really but maybe worth considering.

[Hidden in reply to OldTed60]

Hi! I absolutely agree. Unfortunately with my experiences so far, doctors haven't taken my high ANA seriously at all. I'm told its just anxiety, drink more, eat more, take this vitamin, exercise more. In fact, nearly all have completely ignored the high ANA despite being symptomatic more often than not. I've been trying to get to the bottom of that ANA for a few years now, but have never made any progress sadly. So, I'm just trying to get to the bottom of something.

[Chris21]

Hi Princeton 2021, I agree with everything old ted 60 has said. Unfortunately it took quite a few years to make any sense of what was going on. I’d always be told, it was anxiety/stress/in my head. Eventually piece by piece it came together and today my main diagnosis is lupus sle/sjogrens, raynauld, PBC. You will find things get added along the way. Possibly like neuropathy.

I’ve always had lymphodema and hypermobility but didn’t realise the latter until I was in my 40s.

You only mention blood test, have you had any other tests?

My lupus was finally diagnosed by having unexplained pancreatitis (blood tests originally were negative) sjogrens was by having special paper under eyelids to catch teardrops ( none in my case) PBC was through blood tests and raynaulds, well because your hands change colour.

This is quite a good forum with lots of friendly people and not all have lupus diagnosis. Hope you find the answers you’re looking for. Good luck x

[Hidden in reply to Chris21]

Hi! This seems like a great forum, I’m glad I joined! You asked about other tests besides blood tests. I did have an MRI done (as many of my symptoms are similar to MS), and I was scheduled for a colonoscopy for the GI issues, but they had to settle for just an endoscopy as the preparation drink for the colonoscopy made me quite violently sick. Neither test showed anything. ANA just keeps coming up high positive, although it’s been quite awhile since that was checked. I think it has come up greater than or equal to 1280 three or four times in the past. I agree with OldTed60 that this could also indicated EDS, and I’ve been curious about dysautonomia.

[Chris21 in reply to Hidden]

it sounds as if it might be worth pursuing, at least it’s either a diagnosis or one to cross off.

[Galaxy2]

Hi there, you’ve had some really good advice here already. With your ANA , I’d say definitely keep pursuing an auto immune disease diagnosis. It can take so long to get properly diagnosed which for do many of us has been very frustrating.

I’d also say have a read about Pots, it can be linked to both auto immune disease and hyper mobility.

Have you been tested for celiac disease?

[Hidden in reply to Galaxy2]

Hi! I agree. I think autoimmune has taken a back seat just because we are so stuck with it at this point. I’ve been reading a lot about POTs. I have a friend diagnosed with POTs who thinks I have it. Unfortunately, my heart rate dropping after just a short time (although not very comfortable, it can drop by 50 bpm or more just as quickly as it elevates) has made it very difficult to find someone who will look into it further for me, even though I have many symptoms of POTs. It’s on the back burner though and something I want to discuss more in my next appointment. I have been tested for celiac (looked at previous blood work to make sure) and it was negative.

[murtoz in reply to Hidden]

I have M.E. IBS and PoTS and your symptom list matches mine pretty closely. If you can afford to, I would recommend an appointment with Dr Claire Taylor as she specialised in these things.

For the first time, I feel like I have a doctor who not just believes me, but also knows more about my illness than I do. She's even prescribed meds that I am about to start.

See drclairetaylor.com

[Hidden in reply to murtoz]

Hi! I've been trying to get a POTs diagnosis for awhile now to be honest, but no will give it to me because my heart rate drops so fast after standing. I wish I could see Dr. Taylor, but I'm in the US, not the UK. I really need someone like her though! Someone who will actually believe me.

[murtoz in reply to Hidden]

I'm sorry, not familiar with PoTS health care in the US. Have you tried contacting standinguptopots.org/, they should hopefully be able to point you to a sympathetic doctor?

[Hidden in reply to murtoz]

I have not, but I’ll definitely look into this. Thank you!

[Galaxy2 in reply to Hidden]

I have POTS , my symptoms really fluctuate, so just because your heart rate drops again soon after standing I wouldn’t say rules it out. I have Sjögren’s and vasculitis, I’ve had different opinions on the cause of my POTS , whether it’s linked to nerve damage caused by vasculitis or it’s EDS related. I also have celiac, my blood tests on this were always negative but it was diagnosed by having a stomach biopsy. So many of these diagnoses an be linked , which makes it all so complicated.

Where do you live? What specialists have you seen so far?

[Hidden in reply to Galaxy2]

Hi! POTs is honestly a hard one for me. I already struggle so much with validating myself, and I read recently (on POTs UK) that if a heart rate drops soon after standing, even if it causes dizziness, then it isn't really POTs. I have so many symptoms of it though, and I know it impacts me daily. I haven't really known where to go after reading that, so hoping my next appointment will be helpful. I have been blood tested for celiac, but always negative. My symptoms also really fluctuate, and that includes my reaction to gluten. It can cause a mild stomach upset/ headache to extreme neuropathy flares and pain that renders me unable to do anything. And my heart rate is just all over the place. All my symptoms are very chaotic. Even the severity of my hypermobility can depend on the day. I live in the US, Idaho specifically. I have been to a rheumatologist, cardiologist, two or three neurologists, and a gastroenterologist so far.

[Galaxy2 in reply to Hidden]

That’s so frustrating for you that you’ve seen so many specialists but haven’t got a diagnosis yet. I asked where you lived because if you were in the uk, depending where I could have recommended a cardiologist who specialises in pots.

It took me so long to get properly diagnosed too. Good luck with it all, I really hope you get some answers soon . You could do with a really experienced doctor who can look at the whole picture and piece it all together

[Hidden in reply to Galaxy2]

Thank you! I agree. I need someone who can look outside the box and piece things together.

[hopegalore20]

Hi Princeton2021, sorry to read about your health condition at such a young age.I can relate to a great number of the symptoms that you experience from day to day.

I have Dermatomyositis. This is an Autoimmune disease that affects both your skin & muscles (quite rare).

I have had this disease for nearly 9 years now. I was diagnosed by a Skin Biopsy. This was carried out by a Dermatologist. I see a Rheumatologist and a Neurologist. My condition is still very much active. Which makes day to day life a struggle.

I hope that you get the right help and this puts you on the road to feeling better with your life!

Good Luck.

[Partner20]

Plenty of informed advice here for you. I would definitely agree pursuing the POTS situation, too, as suggested. You mention gluten intolerance, have you been tested for actual coeliac disease? This can result in a huge range of symptoms, not just gastric ones, including vitamin and mineral malabsorption which can have debilitating effects of their own. Fingers crossed that you will find your answers soon.

[Hidden in reply to Partner20]

Hi! I'm definitely seeing a common suggestion to pursue POTs, so I am going to bring this up next appointment. I have been blood tested for celiac, but it is always negative. I was going to have a colonoscopy done to test for it that way, but I couldn't handle the prep drink. It made me so sick they had to call it off. My reaction to gluten does vary. It usually causes, neuropathy, joint pain, fatigue, brain, and also often GI issues, but neuropathy is always the worst symptom. It can also make my fine motor skills and muscle weakness worse. I can react immediately, or even one or two days later, but a reaction will always occur. We do know I really struggle maintain a normal level of vitamin D, so I’ll be on that probably for the rest of my life.