Undifferentiated Connective Tissue Disease

I also have this diagnosis - very high ana and nothing else in that test. However, positive LAC and biopsy of 2 of my rashes diagnosed as Lupus rash. I also have some kind of mast cell issue going on etc. So the muscle spasms, extreme fatigue, not easily raising arms to wash hair - or my favorite walking up stairs are blamed on either of these diagnoses or spinal issues. My blood results for immunology are doable - but weak. I really want to find out between now and death what the heck I have. It is difficult to navigate these areas as it seems the studies are extremely controlled and limited. On top of all of this I either get an allergic reaction or an intolerance reaction to just about every drug prescribed to me. Of all things - the drugs really affect my muscles just like they were all statins. Anyone else in this blog have all of this?

@sickofpasswordsu2 um, WHAT???!!!!??? You have lupus. If you have a biopsy of your skin showing cutaneous lupus, you have lupus. Now… it gets tricksy here because (and here is where I personally disagree as an NP with the existing thinking) there is common thinking that you EITHER have “just” cutaneous (skin) lupus or you cutaneous (skin) lupus and systemic (whole body system) lupus. You can have a positive ANA with either.

It sounds like your rheumatologist is saying you are “cutaneous lupus” but without SLE (systemic lupus). Again- I disagree with this distinction from the patient perspective BECAUSE your whole-body immune system is ALWAYS involved!!!!!!

I would much rather we talk about cutaneous lupus on a very wide spectrum- how much of the skin is involved? Does it require meds to suppress the entire immune system? Are internal organs affected? That’s a way better classification system in my mind and better reflects the lived experience.

It sounds very much to me- like you do not have your symptoms under control. I would really (and very gently) recommend you go in with your list of symptoms to your rheum and explain what your experience, how often, and how it affects your daily life. Treatment is absolutely available and your doctor doesn’t know to treat unless you are persistent in shoving your symptoms (and how it affects you) in their face.

An example: me saying to my derm- my skin feels inflamed isn’t the same as the impact the symptom has: my skin feels so inflamed that most days of the week I can’t wear a shirt for the entire work day. Basically, take the examples from your post- and try to keep a log (if you can) and bring that with you to your appointment- every day? Most days?

That much muscle pain and weakness needs to be checked out. Even if it still falls under the cutaneous lupus label- that’s the immune system attacking other areas.

@fairn if you are ready and willing- I’m all for the dietary changes!! I am a convert after at least 15 years of resistance.

I would start with racking your brain for things that you can identify that- for you- you are pretty sure you know cause inflammation/ gut reaction (literally ALL puns intended).

For me: almonds. I would try out almond milk at my sisters’ or mom’s or friend’s house every few years over the past 20 years “just to see” if I continued to have that same reaction… and yes, I DID continue to always have diarrhea within about 30 minutes of ingesting it. It was not just “a bad batch” coincidentally those dozen times I did that experiment. (I have to beaten over the head with info like this). I used to tell myself I could eat regular almonds, but no… it’s just that blending them up into milk made the proteins so available that my gut reacted immediately instead of slowly.

I did go into my very helpful allergist to check for almond (and dairy) allergies after I had some mouth burning after eating almond paste and almond flour (I was just having general mouth burning inflammation). I do not have almond or dairy allergies- and Dr. W reminded me of something that as an NP I should have known and I talk to people about all the time: when we say “allergies” we mean an IgE reaction to something. So, I don’t have an IgE reaction to almonds or dairy- I’m not going to get anaphylaxis- my throat won’t close off and they won’t kill me. But- there are plenty of other immune cells that react!! IgE is just one type. So, the diarrhea I always get is an immune reaction, just not an IgE immune reaction.

Actual dialogue went something like:
Dr. W: you don’t have an allergy to almonds.
Me: cool, so I’m not gonna get anaphylaxis and die, I can still eat almonds!
Dr. W: you literally just told me you get diarrhea every time you drink almond milk…
Me: yeah, but I’m not gonna DIE…

Again, my threshold used to be too low. Dr. W reminding me that the diarrhea was an immune reaction was what I needed to remember… oh right!! I am increasing my immune response and adding inflammation when I eat those almonds. Duh.

So start with your low-hanging fruit if you already have foods that upset your digestion (again, all the puns intended). Almonds and dairy were very obvious for me.

I have kept a diary - the muscle and fatigues issues not caused by drugs are somewhat cyclical. some months it last 2 days, some 5 days and sometimes 1-2 times a month. I have charted all of my reactions to the drugs/have seen doctors about the muscles - the diagnoses range from mast cell issues, polymyotis (sp?) myotosis, autoimmune (general), undifferentiated connective tissue and spinal cord - no one agrees with each other, We have to have a specialist for each problem - which might work, if they actually conferred with each other. My team is not functional! So, one thing at a time, if adding up doesnt work - i am now trying the elimination process. 1 possible cause has been eliminated, and now I need some genetics to eliminate or confirm the next step..I am 75 - tic toc LOL!

Yeah- it sounds like a wonky immune system. That sounds exactly like my cutaneous lupus- skin = inflamed. The pattern is: there is no pattern. Throw in autoimmune urticaria on TOP of it? Absolutely! So fun!

Since I had chronic urticaria (hives) for 6 months every day when I was 13, I knew what I was dealing with when my lupus rash seemingly exploded from butt cheek on down to ankles in late March.

I wonder (and you don’t have to answer here) if your reactions to medications were primarily getting hives…? If they were, then I think that it is POSSIBLE that they were not drug reactions and you have 2 overlapping things going on: cutaneous lupus and autoimmune urticaria.

I currently have 3 “allergies” I tell all my providers about that I am skeptical about being true allergies. I got hives after taking those 3 drugs, BUT…. It was during the time I got hives every day. So, would I have gotten the hives anyway? Probably. Do I take those drugs? No, because there are alternatives and so I just avoid them. Maybe I got hives from the drug, maybe it was just the daily hives. I don’t care enough to find out. Is was 30-ish years ago.

Because I: 1) was convinced I had hives on top of my lupus when I had a rash from ass to ankles when it really blew up on me 2) had chronic urticaria before in my life and was like, oh no not this again and 3) am an NP and knew how to look up the latest guidelines - I immediately started myself on whopping doses of over the counter antihistamines to get those hives under control.

My lupus biopsy results came back the day before my allergist appointment. When I went into see my allergist- I had a brand-new biopsy proven lupus diagnosis, an itchy hive-like rash in a new area that was still lupus in a new area- and may also be autoimmune hives on top of the lupus or just a super itchy lupus rash?- and was already on 4 over the counter Zyrtec a day to treat the hives. My allergist was like: you’re pretty much on what I’d treat you with- if you need more it would be injectable meds and we’d need a prior authorization through your insurance.

Now- taking 4 cetirizine (Zyrtec) a day - I’m down to 3- will hold off the hives 99% of the time for me. Then, I need a combo of tacrolimus (topical immune suppressant) and sometimes a topical steroid to hold the lupus rash in check. This is… about 60% of the time for me right now and it needs improvement. Then there’s the hydroxychloroquine to protect the internal organ damage (everyone with lupus should be on if they’re able), and I’m on CellCept as a systemic immunosuppressant to chill out my immune system- my initial skin flare was so widespread and nasty that topical treatment was not touching it. I just went up to the maximum dose on CellCept because my muscle aches, joint pain, skin symptoms (but not the hives part), mouth ulcers, and fatigue just didn’t feel like they were under control. I was like: I don’t have to live like this- I need more treatment.

My dermatologist is referring me on to a university for a consult because he’s not willing to treat me with more than 100 g of tacrolimus per month and I’m “complex” and “maybe there is more than one thing going on” and I’m like “duh, lupus and autoimmune urticaria”. And I can’t get him to see that he’s undertreating my lupus juuuust enough to trigger the urticaria. For me, if I get to about 80% maximum skin inflammation, hives. Or… because it’s a Tuesday? Honestly? Who knows.

Sounds like we are going to form ourselves the “messed up mast cell club” and we will just go around being randomly itchy because our mast cells degranulate when someone sneezes 4 blocks away! Why do our mast cells degranulate and cause the hives? Nobody knows. Will antihistamines fix it? No, not entirely because histamines are not the only itch factor. Interleukin 31 is also in the mix apparently. But, I know that when my rheum asked me (about taking 4 times the normal dose) of non-sedating cetirizine “doesn’t that make you tired?” Instead of saying “no”. I should have said “compared to what? Having lupus?????”

The thing that makes me want to cry is that I’m going to need to let my skin flare up right before my consult… and that’s right before my birthday and Christmas. But… I’m willing to do it if it convinces someone to set out a path forward that gets me the treatment I need.

I do get a rash sometimes from the drugs, but basically my muscles are affected - then stomach, then the digestive system. It all goes away when I stop the drug. Some reactions are allergic and some are intolerance. I also get a mast cell rash that hangs around and that one is itchy. The lupus rash grew to 3-4 inch circles and after it "healed" it left a hypopigmented area inside the rings. Hives are sometimes (for me) easier to have when under a lot of stress - nasty med tests or public speaking for example. Did your tryptase level (mast cell) ever get checked? It's a good first step when you are having so many reactions. And it might help to better define what is going on...This is not the same thing as checking the eosilophils and stuff. I think Mayo Clinic is the only lab that does that test so it takes 3-8 days to get the results back when you live elsewhere.

Ah, well, so… all of those things you described are all innate immune system responses. See my other post somewhere RE: food responses. So, exactly what you are describing as an intolerance. Your immune system is reacting to the substance- in this case the drug. Usually that happens for me when my skin is on 90-100% inflamed and my immune system is on highest alert. I don’t tend to have the drug reactions though.

As for testing? I have to be completely honest- I just don’t care. I literally do not care what the tryptase level is. Why? Because it does not change the management plan in any way. The allergist has essentially agreed that it fits the pattern of autoimmune urticaria so we treat it and move on…

Hi @marymaryoregon,

CAR T therapy is showing promising results in lupus. It is still early on experimental, but in 1-2 years there may be an opportunity to participate in the late phase clinical trials with already proven safety and efficacy, or possibly to have an approved therapy. Best advise - do your own research and stay strong for the next 2-3 years to get more promising new treatments. Here is a link to a presentation for Lupus, Myositis, Scleroderma and other diseases with ongoing clinical trials, posted at Patient's Forum at Scleroderma Research Foundation: https://srfcure.org/living-with-scleroderma/patient-forum/
Another link for new research posted on MSN:
https://www.msn.com/en-us/health/other/lifelong-drugs-for-autoimmune-diseases-don-t-work-well-now-scientists-are-trying-something-new/ar-AA1QnqzY

Hello everyone, here is a link to a presentation for multiple autoimmune diseases, Lupus, Myositis, Scleroderma and other diseases, with ongoing clinical trials, posted at Patient's Forum at Scleroderma Research Foundation: https://srfcure.org/living-with-scleroderma/patient-forum/
Look for a presentation: Scleroderma Research in Action – Understanding Clinical Trials, with Dr. Gregory Gordon, Dr. Dinesh Khanna, Dr. Lauren Reinke-Breen, and Dr. Kremena Simitchieva

Another link with new research ideas is posted on MSN:
https://www.msn.com/en-us/health/other/lifelong-drugs-for-autoimmune-diseases-don-t-work-well-now-scientists-are-trying-something-new/ar-AA1QnqzY

@altabiznet I know, I know! I just don’t have the internal/end-organ damage to feel like I should jump ahead of anyone else with lupus (she knocks on ALL the wood). But I love what the researchers are doing. Also saw the article in Science Translational Medicine looking at how EBV may transform B cells and affect the immune system potentially leading to lupus.

I remain skeptical that there is a single pathway to what we call lupus- I remain skeptical that there is, in fact, a single entity of “lupus” but what we have right now are probably a whole bunch of very slightly different versions of autoimmune diseases that end of with damage. And maybe someday we could get to a level of precision where we can go: oh, mine is “chronically inflamed skin genetic variation XYZ and excess mast cell degranulation with a whiff of urticaria”.

There have been some attempts to look at whole genome sequencing and look at clusters of gene variations and cluster patients together based on variations (sorry I don’t have references at my fingertips), but there just aren’t enough of us… and symptoms are so… overlapping? I mean- when the immune system attacks and something gets inflamed because of it- does it matter if the inflammation happened because this cytokine was produced or because that regulator one was out of whack? The end result remains the same, but you can see why it’s so darn hard to figure out why my lupus and her lupus and his lupus and their lupus are all different- the overlapping symptoms can all mush-mash together but the the various weird and strange pathways that brought us here… can all be slightly different.