Aa
A
A
A
Close
Autoimmune Disorders Community
4.07k Members
Avatar universal

Multiple Autoimmune Dx; Newly Positive ANA 1:320 with Areolar; Need Suggestions

I have multiple autoimmune conditions already diagnosed.  Multiple doctors now believe there is an additional one at play.  Work is being done to narrow a diagnosis; and I am looking for help and suggestions.  Forgive the lengthy history; but I am really in need of some experienced input.  At 10y.o. I was diagnosed with Type I Diabetes.  It is confirmed autoimmune.  At 19 my joints began to swell and I developed pyoderma gangrenosum.  At that point my ANA /SED/Etc were all negative.  I was brushed off with a dx of osteoarthritis.  At about 28, my colon stopped functioning (colon inertia) and was removed.  Pathology came back as simple colon inertia even though my surgeon told me it was covered with lymph nodules (as was my entire GI tract inside and out, worst thing he ever saw he reported).  Six months after that surgery, Pegasus testing came back high positive for both Crohn's and Ulcerative Colitis but biopsies were still negative.  5 years later, Crohn's DX.  Along with the Crohn's DX, severe joint symptoms once again, still a negative ANA, but DX of Hashimoto's Thyroiditis (lab was 13.5x the high indicator level).  Trigger fingers DX.  Joint survey x-rays were done, all clear.  Also at this time, DX of MGUS with no M-spike but abnormally high flc ratio.  (Hematology consult gave dx of MGUS, then a few years later said perhaps it is not true MGUS but a severe autoimmune spike?)  In the past year, previously DX trigger fingers now turning to clawing of hands and also feet. Hand joint x-rays are now scarred and show adhesions and triggere fingers but docs have noted no shiny skin hallmark of scleroderma.  Currently, positive ANA 1:320 and CRP elevated to twice the high normal indicator.  ANA titer additional test panel all negative.  SED rate normal.  During ALL previous problems since 19y.o., joint problems, skin issues, Fibromyalgia DX, Chronic Fatigue DX; referred for MS work-up by 3 different providers (Neuro consults disagreed and said that while diabetic neuropathy did not cover all nerve issues, they believe it is "other than MS").  Have also been dx at different points with Hepatomegaly, Splenomegaly, Cardiomegaly; scarred lungs and restricted flows on PFT with 40-60% function variably, esophageal dysphagia and gastroparesis with Barrett's on gross inspection that turned out to be completely benign/negative upon biopsy, Sicca Syndrome.  I have a hx of hallucinations/ other neuro symptoms.  I have also suffered with anesthesia-induced autoimmune encephalopathy.  Many other strange health issues: mouth sores, chronic migraine with aura, joint pain (large and small), stiffness, flat back syndrome, trigger fingers, total body tendonitis/tinosinovitis (sp?), and others too numerous to list.  Have seen a geneticist who "had never seen this much autoimmunity in one family" in their entire career.  Every doctor I have seen for any reason (surgeon, PCP, etc) have all stated that I have at least one thing they have never seen in their career.  I have been sent for work-up for Lupus/RA suspect 6 times (this is my first positive ANA, even with other confirmed AI) and also the MS work-ups and Crohn's work-ups.  Family History of *T1D, Lupus, MS, Down Syndrome, Osteomyelitis, Psoriasis, *pyoderma gangrenosum, *Rosacea, *Hashimoto's Thyroiditis, *Crohn's, Ulcerative Colitis, Dysautonomia (both diabetic related and idiopathic), *Encephalopathy, Epilepsy possibly others I have forgotten. I am seeking a rheum. referral;but in the area where I now live you must come to them WITH a dx.  They do not make dx, they want one already in place from your PCP.  I have no idea what to tell them nor does my internist.  I am seeking suggestions on similar patient scenarios, lab recommendations, imaging recommendations (cannot have MRI due to implant).  Grateful for any help or advisory commentary!
2 Responses
Avatar universal
Positive ANA with NUCLEOLAR Pattern...gotta love autocorrect  :-)
5 Comments
I also should have mentioned that I have a history of retina bleeding, uveitis, very severe dry eye requiring punctal duct plugs and a history of corneal abrasions, maoboemian gland dysfunction both eyes, and asteroid hyalosis (not sure of these sp).  Also have history of severe gastroparesis, chronic gastritis, chronic esophagitis, bile reflux granular gastritis, and hiatal sphincter dysfunction, and GI minor bleeds.  Another unusual symptom is right-side muscle weakness which presents similar to stroke but with no stroke on imaging.  The docs are having trouble pinpointing my specific AI but it is not due to lack of symptoms, as I have so many AI conditions already dx.  As I noted, they do believe that it is a result of AI.  Anyone have info of condition-specific questions or more specific tests and results that help narrow dx?
I'm sorry for all your suffering,  but my sympathy will not help you much at this point.

Here's my  take on all this and for what it's worth, in the end, it is only my own educated opinion.
Your window of opportunity to improve is very small.  It will take some drastic action outside the conventional medical box.
Consider filing for a divorce from the so-called health-care system you are unfortunately married to ( watch out for any opposition to this as you might be in denial).
It has not done much for you, despite all the the doctors visits, all the lab tests, all procedures,  the prescriptions....
The medical system at this point, at best, is only  there to help you in cases of  an emergency in an attempt  to sustain your current health status without further complications and damage.
Prognosis under these  prospects is  not very good.

Let's explore the few options you may have in order to tip the scale to your advantage.

Because you are almost maxed out on serious dxs, your case is most likely considered far too complex by  conventional doctors,  so you need to be seen though new lenses.

A reputable Functional Medicine doctor, with a good working knowledge of A/I  conditions (most  FM doctors have it anyways) will take the functional medicine integrative approach , treating the body as whole, diving deep to address the root causes of disease and not just treating the symptoms.
Insurance and medicare usually do not cover FM doctors, so  paying out of pocket might be
be a significant  consideration for you,  but there are always solutions, as long as one is committed to find and pursue them!

Another possibility is to find a co-operative and open-minded family doctor/PCP who would agree to go along with the FM doctor's directions (for tests, scans, etc. which might be covered under your health plan/insurance) to alleviate some of the costs.

I can offer you information and suggestions ( in detail ) on possible imbalances, genetic mutations, food sensitivity tests, nutritional/mineral deficiencies, hormonal panels etc. but this goes way beyond the scope of this forum.

Arm yourself with knowledge, consider disengaging considerably from the "status quo"
and once you feel ready and more confident, take the plunge!

If you have any questions please let me know.

I must mention that my comments are not  intended as a replacement for medical advice.

Best wishes,
Niko
Niko, thank you VERY much for your comments.  This is exactly what I am attempting to do at present.  You are 100% correct that conventional MDs want no part of my chart, and most will not accept me as a patient.  They look at me like I have 2 heads when I say I do not want more meds.  I want to get a dx (or explanation and working understanding) that is accurate so that I can actually treat the issues.  I have gone gluten-free, anti-inflammatory diet, natural hair and skincare products, natural fibre clothing, etc.  I am not afraid of doing what it takes but am trying to figure out what I am fighting.  If you have an actual idea of where to start looking or what I am looking at, please do inbox me with suggestions.  I have a PCP who says that if she can justify testing as medically necessary etc she is willing to help me try to untangle it.  I would like to test the sincerity of her word and am looking for where to start.
I would love any of your suggestions.  I have compiled a list from helpful fellow patients, forum members, and doctors and specialists I have seen who say "run this by the rheumatologist".  Any additional questions or suggestions to inquire about in my upcoming appointment are greatly appreciated!  I promise to share any answers or successful strategies with this forum.

List: Sarcoidosis; Scleroderma (systemic); SLE; SLE with SSc overlap; UMCTD; AIPES Type III; MAS Type III; PsA; IgG4-RD; Kakuchi-Fujimoto
Forgot to say: Appointment with the Rheum. has been granted and is in a few months time (that was first available;  and I am told is a lucky break compared to most in my area).
1756321 tn?1547098925
I have multiple autoimmune diseases myself. In my case pernicious anaemia (autoimmune metaplastic atrophic gastritis), Hashimoto's thyroiditis, myasthenia gravis, vitiligo, alopecia areta.

In my case I have Polyglandular Syndrome Type 3 and Multiple Autoimmune Syndrome Type 3. I had genetic testing (HLADR/DQ testing) and researched all autoimmune diseases associated with each gene. At this point I already knew 4 of my 5 autoimmune diseases but had suspected myasthenia gravis a few years back. I did a single home test but with no obvious positive result I dismissed it. Due to the genetics mentioning myasthenia gravis I was like hmmm I'll look into this in further. And yes I have MG.

So the HLADR/DQ testing was helpful. As is knowing what possible other conditions occur in clusters.

The following info is from the book "The Everything Guide To Thyroid Disease" by Theodore C. Friedman, MD, PhD and Winnie Yu Scherer:

"Although the majority of people with Hashimoto's will not develop any other disorders, it's important to know what some of these autoimmune conditions are in case you do start to experience symptoms. Keep in mind, too, that you may be more likely to develop Hashimoto's if you have one of these other conditions.

Type 1 diabetes
Pernicious Anaemia
Addison's Disease
Vitiligo
Celiac Disease
Alopecia Areta
Systematic Lupus Erthematosus (SLE)
Rheumatoid Arthritis
Sjogren's Syndrome
Inflammatory Bowel Disease
Multiple Sclerosis (MS)"


Excerpt from Elaine Moore's article Multiple Autoimmune Syndrome...

"Multiple autoimmune syndrome can be classified into three groups that correspond with the prevalence of their being associated with one another. In patients with two autoimmune diseases, this classification is helpful when signs of a third disorder emerge.

Type 1 MAS includes myasthenia gravis, thymoma (tumor of the thymus gland), polymyositis (inflammatory muscle disease), and giant cell myocarditis (inflammatory heart muscle disease).

Type 2 MAS includes Sjogren’s syndrome, rheumatoid arthritis, primary biliary cirrhosis, scleroderma, and autoimmune thyroid disease (Hashimoto’s thyroiditis, atrophic thyroiditis, Graves’ disease).

Type 3 MAS groups together autoimmune thyroid disease, myasthenia gravis and/or thymoma, Sjogren’s syndrome, pernicious anemia, idiopathic thrombocytopenic purpura (ITP), Addison’s disease, insulin dependent diabetes, vitiligo, autoimmune hemolytic anemia (AIHA), systemic lupus erythematosus (SLE), and dermatitis herpetiformis. For this group, the immune system marker HLA-B8 and/or DR3 or DR5 seems to be an important factor.

Other conditions found in various combinations in MAS are:

pemphigus and autoimmune thyroid disease in type 1 MAS;

chronic active hepatitis, SLE, pemphigus, bullous pemphigoid, AIHA, ITP, alopecia areata and Addison’s disease in type 2 MAS;

acquired primary hypogonadism, hypophysitis, rheumatoid arthritis, primary biliary cirrhosis, relapsing polychondritis, multiple sclerosis, chronic active hepatitis, ulcerative colitis, and scleroderma in type 3 MAS."
4 Comments
Red-Star,  I am so grateful for this info.  I began by looking at which AI conditions can cause an abnormal  kappa/lambda free light chain ratio.  I will also print your lists, and look into getting copies of the reference books.  I have been fortunate in that doctors can see many of my issues on testing, and I have  a very positive family history which has loaned a bit of credibility for my questions as well.  The biggest problem that I have been experiencing is too many things that symptoms could be attributed to and how to sort out which thing is which.  I have also been running into the problem of docs saying "I believe you I just don't know where to start."  I have been researching on my own, then going to appointments and asking questions and laying out my basis for the question or the lab or testing request.  This info has helped me a lot with that, which I appreciate very much!
For any others trying to sort multiple conditions incase you may find it of use, this is the study that I read which helped me to start grouping AI associated with polyclonal free light chain abnormalities.

Link to article:
http://europepmc.org/articles/PMC3564472
I hope you find out what is going on! :)
Thank you so much for the great leads!  If I can get them to arrive at a dx, I will definitely update.
Have an Answer?
Top Autoimmune Diseases Answerers
1756321 tn?1547098925
Queensland, Australia
Learn About Top Answerers
Didn't find the answer you were looking for?
Ask a question
Popular Resources
A list of national and international resources and hotlines to help connect you to needed health and medical services.
Here’s how your baby’s growing in your body each week.
These common ADD/ADHD myths could already be hurting your child
This article will tell you more about strength training at home, giving you some options that require little to no equipment.
In You Can Prevent a Stroke, Dr. Joshua Yamamoto and Dr. Kristin Thomas help us understand what we can do to prevent a stroke.
Smoking substitute may not provide such a healthy swap, after all.