Possible autoimmune disease?

[rknich]

Hey guys!
For the past 5 years or so I have been having a lot of weird symptoms happening, like joint pain, severe fatigue, stomach issues, alopecia, and much more. I had a ANA test done 3 years ago because I was having really bad joint pain, especially when I woke up, and also my feet were turning purple. I found out I have Raynaud and also had a slightly positive ANA title of 1:8 speckled homogenous. The rheumatologist said it was nothing and to come back if I get more problems. Well fast forward to now, I have been getting sick all the time (like every two weeks), still have joint pain and really bad fatigue. I had another ANA test done and it was negative but my doctor is sending me to a rheumatologist anyways because I have had a bunch of abnormal labs here and there, like labs that go from positive to negative including an elevated ESR, ANA, and T3.
Honestly, I have been to the doctors so many times the past 5 years I’m not even sure if its worth going to a rheumatologist because my last test for ANA was negative. I have had so many doctors not believe me the past couple of years (like one doctor told me my constant headaches were from poor posture and anxiety but it ended up being chronic migraines). I have still been having symptoms though. I have a really hard time walking sometimes because my knee will just have shooting pain all of the sudden. I am super sensitive to weather, like if its cold my feet and hands turn purple and if its warm my whole body feels like I’m gonna pass out. I develop bruises like no bodies business (I have 7 that happened overnight on my leg). And I also have this weird pink patch on one of my cheeks (kinda looks like I put blush on one cheek but not the other).
Have any of you experienced this before? Any advice?

[Ken_PA]

"...if its warm my whole body feels like I’m gonna pass out"
Did any doc prescribe a calcium channel blocker med to combat the Raynaud's? Maybe that's lowering your blood pressure too much at times.

I'd get a home BP monitor and check BP when you feel like passing out.

[Ken_PA]

Here is the short version, rknich. I'd say to the new rheumy:

"I'd like to be tested for the individual antibodies, not just the total ANA. Your rheumy conference that I printed for you said that a person can have negative ANA but still be positive for anti-RNP and anti-DNA, which btw happen to be associated with MCTD/UCTD. And having low anti-Smith tends to rule out lupus."

[Ken_PA]

"I have been to the doctors so many times the past 5 years I’m not even sure if its worth going to a rheumatologist because my last test for ANA was negative"
You're right, you've been to at least one rheumy before and this new one might only go down the same fruitless path of doing the ANA test -- and if it's low or negative, then just dismiss the patient.

But still, it is well worth trying to avoid far worse problems that can develop from your condition, such as with the heart or lungs, rather than just letting things go on. (How are your lungs, btw? That's important to answer.)

Lupus is just one possibility, and not necessarily the most likely. With the Raynaud's and the speckled ANA pattern, Mixed Connective Tissue Disease (MCTD) comes to mind. MCTD is like lupus in many ways, yet different. Yet another is UCTD, so yep it's complicated stuff.

It's essential to know that the ANA is actually a hodgepodge of different types of antibodies. The ANA just gives the total of all of them. Most docs, and probably a lot of rheumys, believe that the ANA has to be high (an ANA titer of at least 1:80) in order to have any of the group of lupus-like diseases. But what if that's true for most, but NOT true for a small minority like yourself?

Here is a presentation made at the big Rheumatologist conference of 2015:
"Clinical Evaluation of Patients with Positive Antibodies to Extractable Nuclear Antigens but Negative ANA"
https://acrabstracts.org/abstract/clinical-evaluation-of-patients-with-positive-antibodies-to-extractable-nuclear-antigens-but-negative-ana/

What those researchers looked at was a group of patients with certain symptoms, yet a negative ANA total. The patients were also tested for the individual types of antibodies. The most common one found is called anti-RNP. That's the type which is most associated with MCTD. The next most common are anti-DNA. They are also associated with MCTD. The type called anti-Smith was almost non-existent... which also happens to be true in MCTD. (But in lupus, anti-Smith would be high, not low.)

-------

Who says that anti-RNP is noteworthy in MCTD? One example:
https://www.merckmanuals.com/professional/musculoskeletal-and-connective-tissue-disorders/autoimmune-rheumatic-disorders/mixed-connective-tissue-disease-mctd


**Extractable Nuclear Antigens is just a subgroup of ANA that includes all the individual antibodies mentioned here.

[CHIN_C]

Symptoms and signs of lupus include:

Malar rash – a butterfly shaped rash across cheeks and nose
Skin rash – raised red patches
Photosensitivity – unusually strong reaction to sun light, causing a rash or flare
Mouth or nose ulcers – usually painless
Nonerosive arthritis – inflammation in two or more joints.
Cardiopulmonary involvement – inflammation of the heart lining and/or lungs
Neurologic disorder – seizures and/or psychosis
Kidney disorder – increased protein or clumps of red cells in urine
Blood disorder – anemia caused by damaged red cells, low white cells or low platelet count
Immunological disorder – when your immune system attacks healthy cells
Antinuclear antibodies (ANA) – positive blood test not induced by drugs

Your clinical presentation is highly suspicious for lupus. You should consult a rheumatologist as soon as possible for further workup and evaluation. For more information, please refer to the following article:

https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-systemic-lupus-erythematosus-in-adults