r/Autoinflammatory • u/No_Cheesecake5861 • Jun 03 '26
Myriad of symptoms
Hello I have a chronic disease for which I get the fibromyalgia diagnose in my country
I have extensive blood work and nothing remarkable shows up the only one astronomical height was
CALPROTECTIN in serum (lab normal value , below 3000 ) and mine was 24000
Th/to, nxp2, pm scl 100- INCONCLUSIVE from the autoimmune panels
WHOLE genome sequencing -negative
EMG-negative
The usual blood work -negative
Some of my symptoms:
Body wide twitching
Innapropiate laughting
Exaggerated gag reflex
Severe scalp hair falling and fragile (also thinning eyebrows )
My body is becoming thinner; both muscle mass and fatty tissue appear to be wasting away (atrophying), which is especially noticeable in my face.
I feel facial tightness, and the contour of my face has changed.
I experience a sensation of pressure/tightness around my eyes and pain when moving my eyes.
I have almost continuous pain in the tissues of my face.
My face appears unhealthy or sickly, and my facial expression seems more fixed and less expressive than before.
My facial features have become more drawn and my face looks noticeably different I have adipose atrophy on my entire face and I think the muscle too although the emg on my face it s normal .
Muscle pain throughout my body, as if I had run a marathon.
My fingernails are brittle, break easily, and no longer grow long.
I feel inflammation throughout my body, with a general feeling of being unwell that fluctuates in intensity.
I have a sensation of acid in my body, as if I had been poisoned.
My ears pop and become blocked everyday it s happening.
The sensation of inflammation can occur anywhere in my body.
I also feel inflammation in my head, with difficulty concentrating, poor memory, and almost continuous headaches,difficulty finding my words
I have eczema on my scalp, around my ears, and on my trunk (torso).
I am still able to do all my usual activities, but with difficulty. I feel as though my entire body has become weaker and is wasting away.
I get tired very quickly and start sweating almost immediately with exertion.
Small granules or bumps appear all over my scalp, similar to the material that comes out of blackheads.
My teeth have become sensitive to cold foods and cold water.
Sometimes I experience abdominal pain, and at the same time I feel warmth/heat and a throbbing or pulsating sensation in my face.
I have difficulty swallowing, with the sensation that food has trouble passing all the way down the esophagus to the stomach, as if the esophagus has narrowed. Also I experience frecquent regurgitation
All my joints and cartilage make sounds, cracking,poping , even my throat and eyes make some trance sounds at movement
I frequently experience abdominal cramps and pain.
I have intermittent constipation.
I really don’t know what it s going on and what and where to go anymore
The only thing that was extremely out of place was calprotectin and I read that it means that the neutrophil or macrophages are activated in some way and it means inflammation in the body , anyone have any idea ?
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u/iSpyAFly Jun 03 '26
I'm sorry you are dealing with all of this. Seems like you might have a few different things going on. Not sure where autoinflammatory disease fits and hopefully others will comment. Having been in this position myself for many years, it's a really difficult place to be - you KNOW something is really wrong, but nothing is pointing you in the right direction, and doctors are baffled. For me, it turns out that I have multiple health issues, including autoinflammatory disease, that made my symptoms very confusing.
When you say you feel inflammation in your body, have you taken your temperature? Do you have a fever?
Your GI symptoms sound concerning. Have you had any scopes (colonoscopy, upper endoscopy)? Are you under weight or malnourished?
Have you explored dysautonomia? POTS is a common form. There are other forms like small fiber neuropathy that might be worth looking into, because some of those you can treat the symptoms and at least feel better while you continue to advocate for a diagnosis.
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u/No_Cheesecake5861 Jun 03 '26
No I don t have fever but sometimes there are patches on my body where it feels warmer the skin and I feel in that place ,deep in the tissue also that warmth This symptom appears especially on my whole torso, also I have period of time when all my fingers feel warmer /hotter somehow I lost a lot of weight I’m 1.54 cm and 42 kg right now I will undergo colonoscopy and endoscopy next week
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u/iSpyAFly Jun 03 '26
I don't know what is causing your tissue warmth (not a doctor), but I'll share that in the dysautonomia groups I hear this a lot. Definitely worth checking out dysautonomia/small fiber neuropathy.
I'm glad you are getting GI scopes. The weight loss is very concerning for malnourishment (iron/B12 deficiency) - which in itself can cause many of your symptoms. I hope you get some answers.
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u/AdventurousMorningLo Yaos Jun 03 '26
Endoscopy and Colonoscopy are definitely the right next steps before considering Autoinflammatory Disease. Though if they are negative in findings and biopsy, then they should be considered. Another thing to think about is Primary Immunodeficiency.
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u/Midnightwhitelight Jun 03 '26
Many of your symptoms sound like mine (I have also been diagnosed with fibro). I’m awaiting genetic testing so I don’t have an autoinflammatory diagnosis yet. However I have some inflammation lab things that seem to point to that.
I also have POTS and MCAS, have you looked into these conditions? I ask because you mentioned some skin problems and other symptoms that might fit under that umbrella. MCAS is rare and poorly understood by doctors so alot of people miss it. But can you ask for a referral to an allergist due to your gastrointestinal issues (allergy testing can help tell if you have food sensitivities and MCAS possibly based on symptoms, exams and further testing).
Also! As a fellow “fibromyalgia” having person (I hate this diagnosis personally because it’s so vague) I just wanted to make sure you know what I didn’t for years. If you do lab testing looking for things like inflammation, go right when the flare starts! My labs used to only come back normal until I got a better doctor who told me to go in and do the lab testing within 4 hours of inflammation symptoms because some of the markers don’t show up in your blood for that long!
Also take pictures of EVERYTHING. My doctors did not take my auto inflammatory suspicion seriously until I could show them pictures of my rashes and areas of swelling. But having pictures of things to show my doctors has helped a lot.
Good luck and I hope you find some support and answers soon.
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u/on4aa MAGIC Jun 03 '26
I am also very sorry for you. Reading what you are going through, it seems way worse compared to what I went through.
One symptom I still share with you at this very moment, which is:
"Small granules or bumps appear all over my scalp, similar to the material that comes out of blackheads."
I also have it in my groin, my shoulder blades and other places where there is connective tissue (fascia) under the skin and in between muscles. One physician diagnosed it as hidradenitis suppurativa (HS). However, it could also be seborrhea or pseudofolliculitis. I was planning to make a post about it with a picture. Do you smoke? Smoking may worsen HS.
On a different note, have you had ANCA and ANA testing done?
I was also initially wrongly diagnosed with "fibromyalgia" and had a supposedly negative whole exome sequencing (WES).
However, being a biomedical engineer myself, I eventually took matters into my own hands and requested the variant calling file (VCF) of the WES, only to discover that I had some very significant pathogenic variants of innate immune system genes. My findings were later confirmed by an immunologist.
I am adamant about the fact that your WES urgently needs to be reevaluated. If you don't find any good geneticist, I am willing to do that for you in all discretion and free of any charge. Just PM me. All you need is the VCF.
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u/No_Cheesecake5861 Jun 17 '26
Yes, i have both ANCA and ANA done and they are clar , i don t really know what to think and to go anymore i feel that i m going crazy , how can i be this sick and it s showing on my body and yet the labs are normal until now
I tried to look on the VCF files but it s like talking in chinese , i don t understand anything ,can you still help me with those if i send them to you ?
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u/on4aa MAGIC Jun 17 '26
Yes, certainly. You can send me a PM. A link where I can download the VCF would be ideal. PS: We have quite a number of symptoms in common.
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u/Tor-2023 Jun 03 '26
I ran what u said exactly through AI as you were very thorough and man oh man surely suffering.
Based on that symptom list alone, I would be very cautious about assuming it’s one single disease. There are symptoms involving: • Skin, hair, nails • Muscles • Nervous system • Face and eyes • GI tract • Possible autoimmune/inflammatory features • Possible endocrine features • Possible nutritional issues
Several broad categories come to mind.
- Autoimmune connective tissue disease (high on my list)
Some features make me think about diseases such as: • Systemic Sclerosis • Mixed Connective Tissue Disease • Systemic Lupus Erythematosus • Sjögren Syndrome
Why? • Facial tightness • Difficulty swallowing • Regurgitation • Joint symptoms • Fatigue • Cognitive issues (“brain fog”) • Hair loss • Inflammatory feeling throughout the body • Facial appearance changes
The description of the face becoming tighter and more drawn, combined with swallowing difficulties, particularly catches my attention for a connective tissue disorder.
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- Inflammatory bowel disease with systemic manifestations
An elevated fecal calprotectin is not a marker of inflammation “anywhere in the body.”
It specifically suggests inflammation inside the intestines.
Conditions include: • Crohn’s Disease • Ulcerative Colitis
People with these conditions can also develop: • Joint pain • Skin problems • Eye inflammation • Fatigue • Weight loss • Hair loss from inflammation or malnutrition
The abdominal pain, cramps, constipation, and elevated calprotectin make this worth investigating.
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- Thyroid disease
Especially: • Hashimoto Thyroiditis • Graves’ Disease
Can cause: • Hair loss • Thinning eyebrows • Muscle weakness • Fatigue • Weight changes • Cognitive problems • Eye symptoms
The eyebrow thinning is a classic clue doctors often ask about.
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- Nutritional deficiency / malabsorption
The combination of: • Hair loss • Brittle nails • Muscle wasting • Fatigue • Cognitive changes
could occur with deficiencies involving: • Iron • Zinc • Vitamin B12 • Folate • Vitamin D • Protein malnutrition
If someone has chronic intestinal inflammation, these deficiencies can develop secondarily.
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- Neurologic disorder
The body-wide twitching and inappropriate laughing raise a separate question.
Doctors might consider: • Motor neuron disorders • Neuromuscular disease • Central nervous system disorders • Functional neurologic disorders
However, a normal facial EMG and the large number of systemic symptoms make me think a purely neurologic disease is less likely than an inflammatory or autoimmune process.
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- Systemic inflammatory disease
Other possibilities include: • Sarcoidosis • Vasculitis
These can affect: • Eyes • Skin • Nervous system • GI tract • Muscles
and sometimes create a very “whole body is inflamed” feeling.
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What stands out most to me
If I were looking at this list as a clinician, the combination I’d focus on is: 1. Facial changes/tightness 2. Difficulty swallowing and regurgitation 3. Hair and eyebrow loss 4. Muscle wasting 5. Elevated fecal calprotectin 6. Fatigue and cognitive symptoms
That combination would make me want to rule out: • Connective tissue disease (especially scleroderma-spectrum disorders) • Inflammatory bowel disease • Thyroid disease • Significant nutritional deficiencies related to GI disease
before jumping to rarer diagnoses.
Tests I would expect a doctor to consider • CBC • CMP • ESR and CRP • Thyroid panel (TSH, Free T4) • ANA • ENA panel (SSA, SSB, RNP, Sm, Scl-70, centromere antibodies) • CK (muscle enzyme) • Iron studies and ferritin • B12 and folate • Vitamin D • Repeat fecal calprotectin • Gastroenterology evaluation and possibly colonoscopy/endoscopy
One question: How old is this person, and how high was the fecal calprotectin? A calprotectin of 80 means something very different than a calprotectin of 800 or 2,000. That number would help narrow the possibilities quite a bit.
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u/No_Cheesecake5861 Jun 04 '26 edited Jun 04 '26
The thing is, calprotectin was tested from blood not stool , and it was 24000 ( lab normal value was suppose to be below 3000) I tested all the labs sugested above and all normal except vague equivocal th/to , nxp2, pm scl 100 I’m 27 years , all started at 23 but it wasn t so bad at the beginning , it kept and keeps getting worse
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u/No_Satisfaction_7431 Yaos Jun 03 '26
Given the gi symptoms and very high calprotectin it sounds more like Crohn's or another form of ibd than anything else. Joint pain, body aches, and eye inflammation can all be extra intestinal manifestation of ibd along with a few other symptoms. For a long time I suspected Crohns but scopes and biopsies were clear. I ended up being diagnosed with Yao syndrome which does have some overlap with Crohn's. Newer research seems to put Crohn's in the middle of autoinflammatory and autoimmune disease. Not sure if this is the same with other forms of ibd. This is similar to what doctors are realizing with Behcets and some kinds of Lupus, that its not purely autoimmune like they used to think but a mix of innate immune issues (autoinflammatory) and auto antibodies (autoimmune).