Weird cluster of symptoms - some sort of CTD?

Hi all, I'm new around here. I'm female, in my early 30s, and was diagnosed with Hashimoto's thyroiditis six or so years ago, but that has been well-managed with Synthroid, and I haven't had any significant health issues since then up until now. My random googling brought me to this forum, and though I have not been diagnosed with, well, anything, it seems as if folks in the lupus forum might have experienced something similar to what I'm experiencing. If any of you have had similar issues, let me know-- right now, both me and my growing team of doctors are stumped!

about a year ago, I started to have tingling in my hands and feet. That tingling remains but has not progressed. In addition, I have deep aching pretty constantly in my lower legs up to above my knees that gets worse with exercise, and the ache is also sometimes in my shoulders and upper arms. I have blepharitis (swelling of my eyelids, accompanied by styes) and some telangiectasia in my eyelids, too; my eyes sting and feel gritty most of the time. I have the faintest of pink tinges to my nose and cheeks, but it doesn't seem prominent enough to be the malar rash typical of lupus. Most notably, I have raised skin lesions -- like urticaria or palpable purpura -- across my trunk, upper thighs, and occasionally my upper arms. They last for weeks, and as they fade, they look more like petechiae and purpura (they don't blanch when pressed), and they often leave a hyperpigmented spot permanently. The sometimes itch, but not constantly. I've had three biopsies, which showed inflammation and "a subtle vacuolar interface change consistent with connective tissue disease, such as dermatomyositis" (that's from a pathology report, verbatim).

Oh, and I'm tired a lot. My couch is my home when I'm not at work.

I have been tested for everything -- trust me, everything -- and everything, from ANA to EMG to MRIs has been normal, except for a low C4 complement level, and an at-the-very-lowest-end-of-normal C3 complement level.

My doctors -- an unwieldy team including a neurologist, rheumatologist, dermatologist, ophthalmologist, and internist -- recently ordered a muscle enzyme blood test (results not back yet) and are pushing me for a muscle biopsy.

I know this is a pretty random collection of symptoms, but I'm feeling crappier and crappier, and my doctors (who I trust -- they're wonderful!) are sort of stumped. I live in a pretty small town in the middle of nowhere, so I get that they don't get weird cases a lot. (I honestly think they're having fun with a medical mystery; I'm like the most popular patient in town.)

So, does any of this look familiar to anyone? Or am I slowly going insane?

(And sorry if the lupus forum was the wrong place to post -- I didn't know where else to post about weird, probable CTD symptoms. Let me know if somewhere else is better to talk about this.)

Post Edited (Elbee) : 4/22/2012 2:51:33 PM (GMT-6)

There have been mumblings among the doctors about referring me to Mayo, but I'm unsure about dealing with that expense and taking time off work. We'll see how desperate I get. It would be worth it if someone could fix me.

The rheumatologist I see says I don't seem like lupus, but the doctors all seem to agree I have some sort of autoimmune connective tissue disease. I've read about so many autoimmune diseases, and I don't quite seem to fit any of them...

They have not treated me for anything beyond trying to help me with my pain. I take tramadol pretty regularly to take the edge of my leg (muscle? nerve?) pain. There has been talk of trying a prednisone taper, but they're also concerned steroids could mask test results (like the muscle biopsy) that could help with diagnosis and developing treatment. I'm not excited about trying prednisone because of the side effects, but if it could help fix me, I'd be game to give it a whirl.

They were all hung up on this being some weird vasculitis (urticarial vasculitis, anyone?) until the biopsies came back looking like what they'd see in skin lupus (I forget the proper term for that) or in dermatomyositis. I feel like I'm just along for some weird fun ride for the doctors, now.

Thanks for the link and for the feedback! I'm unused to having such weird and unrelenting medical issues and don't really know anyone else with similar experiences, so it's a relief to find people who seem to have more experience in living with and dealing with the weird stuff.

Thanks for the info, Bill. I think CPK is one of the enzymes they're testing right now. I'm still unsure about whether I want to get a muscle biopsy. It sounds more invasive than I'd like.

After reading what I could find about dermatomyositis, I don't fit the classic presentation for that disease at all. I don't have any notable weakness, nor are my skin lesions the kind that are classic for DM. But I also know that autoimmune diseases can be notoriously difficult to pin down sometimes, so I'm trying to be patient and trust my doctors and their proposed diagnostic tests.

After a year of this, though, I'm growing a little weary of feeling like a human pincushion / token small-town medical mystery. I figure someone out there in the wide world must have experienced a symptom cluster similar to mine. I just have to find that person and pick his or her brain...

I appreciate the info so much-- thank you!

PS- Bill, have you been to Mayo (or anyone else around here)? It seems like it will be time consuming and expensive. Is it worth it? Do they get results?

Bill, thank you again. That was very helpful. It sounds like you've been through a heck of a lot, and I very much appreciate you sharing what you've learned.

I'm trying to do exactly what your signature line says-- "remain optimistic." I'm nowhere near dying (at least I don't think I am!), just worn down, so I think I'll be okay to take it slow with the decision to go to a city. I have good insurance through work, so it's more the cost of travel and taking time off that concerns me. The clinic approach really does sound nice, though, doing it all in one place, at one time. I've been worn out by this constant bouncing from doctor to doctor.

Anyway, I'm going to give these enthusiastic and really very nice small-town docs a bit longer to figure me out, as long as I don't get worse. It would be nice to figure out what is up. But so it goes.

Elbee, You may want to consider a tick-born infection.

Read in the Lyme Disease section and you may see something

that sounds familiar to you. A tick that carries the bacteria

that causes Lyme can also carry other co-infections.

Weird multi-system symptoms can often be Lyme.

The tests are not always reliable, so don't throw out

the idea if a test comes back negative.

Read through Lyme threads here, just Look at Lyme!

My 17 daughter is being treated now after 4 years of weird

symptoms, normal tests and not knowing. Getting better slowly!

You'd need to find a Lyme-literate doctor, if you choose to pursue

this. They would clinically diagnose you. Blessings on you!    

MomOfLymeTeen

Lol. Of course I know what CTD is...just had a nice Lupus brain fart. Sigh. I hate those, fortunately as long as I eat and sleep well they are sparse.

Mayo missed my lupus...was a waste of time for me. YMMV.

Hang in there, I hope you find a solution soon!

Where did you find a chronic illness counselor? I probably need someone like that, but don't know where to start looking. After 10 years I am still pushing my limits at every turn.

Remember that sometimes trying to understand every detail can stress us out even more which in turn makes our symptoms worse...try not to get on that endless cycle!

Hang in there Elbee. It took ages to diagnose my 'undifferentiated' connective tissue disease and I am still hit by new, surprising symptoms. Your symptoms sound very similar - I have tingling hands and feet, peeling skin and a mild, often itchy rash on my upper arms, thighs, chest. The pain sounds similar and the eye trouble too. Eye drops have helped but the contact lenses have long gone. My big problem though that led to the teaching hospital is recurrent pleuritic pain - I am on painkillers all the time. I agree a teaching hospital is a good option but supportive doctors are also invaluable. Have had the same experience with chronic illness counsellor - has made huge difference. Are your doctors treating your symptoms at least? The whole process became much more manageable when the doctors started treating the symptoms on the basis that they were sure it was autoimmune and decided that feeling better was more important than having a name for the disease. Now I just have to get used to the varied other autoimmune things that hit - maybe Hashimoto's, iron deficiency, Vit D deficiency and who knows what else?!

I know! I am excited to know that I am not on my own with this set of symptoms after all. It certainly feels like it most of the time.

I was diagnosed with Hashimoto's 5 years and spent two years on meds but then changed specialist, only because I had to move with work, and the next one decided I didn't have it - in his view the tests were borderline -so frustrating. I had been taking vitamin D supplement but then my bloods showed a big deficiency and I had a week of very high supplement does which helped. Having that rechecked, they saw that I was iron deficient now. I take supplement for that and it has helped a bit with the fatigue. It is just so frustrating to hear the words - this is not unusual for someone with autoimmune....with so many things.

My official diagnosis is connective tissue disease (query SLE). I am treated for SLE - prednisone, plaquenil, arcoxia, tramadol, codeine phosphate (when needed), salbutamol (when I have the pleurisy), omeprazole, calcium/vit D and sertraline. Good doctors have consistently told me that the 'definitive' diagnosis is not important, it would not change how they treat it and the nature of autoimmune is that there usually isn't one answer. For a long time, that was the hardest part, I just want a straightforward name for it.

You asked about the results - I had low complement levels, the first clinical indication, then the ANA although that isn't always consistent - sometimes positive, sometimes negative (apparently possible with Lupus). My inflammation indicators (ESR and CRP) are often the only thing that shows there's anything wrong - according to the bloods - with high levels.

I still struggle to accept there won't be a more definitive diagnosis - every time I see the specialist I hope that this will be the time. You clearly need to make some progress with diagnosis to get the right treatment but as a doctor said to me, try not to get hung up on the name or 'proving' it with bloods - autoimmune and CTD is just like this.

Good luck - let me know how you get on.

Wow, CaseyR. You're definitely my symptom twin. Cool. And my doctors seem to be on the same page as yours-- that this is some sort of autoimmune thing that they can't name, and they'll treat accordingly.

I am trying to control the urge to pick your brain. But I do have a few questions, if you don't mind:

What is your gender, and how old were you when this started to show up for you?

What sort of medical center do you get treatment at? How effective was your visit to a big teaching hospital? Do you live urban or rural? (I live in a small town with a single rheumatologist, no endocrinologist, etc., and I'm weighing whether to go to a bigger city for evaluation at some point.)

Regarding your rash: what does it look like? Like you, my rash has been limited to my torso, upper arms, and thighs. I occasionally have petechiae and purpura on my lower legs, but it's not the same as what's on my thighs/torso/upper arms.

Regarding treatment: do you feel like the medications have done something for you? Especially ones like prednisone and plaquenil that are to treat the disease and not just symptoms.

And finally, from another thread, it sounds like you've been dealing with this for over a decade. Have you had much progression or surprise new symptoms or organ involvement as time passes, or have you stayed about the same? Do you flare, or are the symptoms pretty much constant? Has anything gotten better? I've heard that it some cases these unidentifiable autoimmune conditions can "burn out" in 5-8 years.

Thanks so much in advance for taking the time to answer my questions. It's been maddening feeling like I was the only nutcase with these symptoms. And insight you can offer would mean the world to me. And I'll definitely let you and everyone know when something significant comes up-- it's been such a relief to me to learn from others' experiences that I hope my own experiences can help someone else in the future.

Post Edited (Elbee) : 5/7/2012 4:49:16 PM (GMT-6)

Hey Casey-- I'm glad you made it back here! No worries on the delay. I know how life can take over.

I'm surprised how similar our symptoms are. I have pretty frequent all-over itchiness, too, but with no apparent rash. It comes and goes.

Oh, and I have started taking Plaquenil, which seems to have helped the rash quite a bit. It's less frequent, anyway. Do you find it pretty helpful? I wish it would help the pain more, though. Naproxen was helping for a while, but then my stomach got incredibly sensitive. I'm trying Mobic now.

So far, I've not had sinus issues nor have I experienced pleurisy. Otherwise, it all sounds about the same. I don't remember having a remarkable illness in my teens or twenties, besides Hashimoto's, which was diagnosed when I was about 25.

I've posted an email address in my profile temporarily. If you're comfortable with it, please email me, so we're able to keep in touch. Specifically, I'd like to get information about the teaching hospital you went to and the doctors you've seen. I live in a small town, and my rheumatologist has asked me a few times about going to a teaching hospital, and if I'm going to make the effort to travel, I'd much prefer to go somewhere where they've seen someone with issues similar to mine. At the least, my rheumatologist could talk to your doctors to get a better idea of what he's dealing with-- he is pretty baffled by me. Also, it could be useful to be able to contact each other if a particular treatment proves effective or worrisome symptoms arrive.

So, anyway, Casey, I'm really thankful you wrote back. You're the only person I've ever encountered with the same constellation of symptoms as me, as I've mentioned before. Shoot me an email if you would like (I promise I'm not actually a devious spammer about to flood you with snake oil and supplement advertisements). Hope you get the sinuses worked out!