▲ 4 r/Autoinflammatory+2 crossposts

Could This be Autoinflammatory?

This is a repeat post. But I have more thorough information update. But still no answers.

Who You Are
31. Male. Swiss/Armenian/American. Non smoker. 88kg. 198cm. MSc Nutrition Science. Works in rheumatology NGO. Lifelong systemic illness since childhood. Hospitalised at age 1 with systemic bacterial infection.

What A Flare Looks Like
Flares are triggered by foods, such as peanut butter, walnuts, sauerkraut, yoghurt, UHT milk, and other proteins, with severity proportional to the amount consumed. Onset begins within a few hours of exposure, peaking over several days. Symptoms include chills, fatigue, feverish feeling, sore throat, burning ears, runny nose, red eyes, stomach irritation, nausea, irritability, and stiff internal neck with lymph node pain. There is no fever. 

Most symptoms present at baseline to some capacity, with great QOL impact

Without rescue treatment, flares persist for weeks. The only reliable rescue is ⭐️azithromycin (2 x 250mg spaced over a few days). Azithromycin works every time without exception. Prednisone definitely provides relief (3 days to work). But relief is incomplete. Doxycycline does nothing.

Even after exposure stops, the flare continues, and it is unclear whether it ever fully resolves on its own anymore.​​​​​​​​​​​​​​​​ Quercetin also provided notable relief (3 days to work). Felt like healing even compared to azith which just stops flares. But then tacphylaxis.

Symptom Clusters During Flare
Flu / Infection Feeling: Chills, hot flu-like sensation, sore throat, runny nose, red eyes, skin itching

Headache/Burning: Temporal headache and pressure, burning hands/abdomen (worsened by omega-3s, relieved by Advil and quercetin)

Lymph / Neck: Previous periods of very swollen neck and face lymph nodes (particularly 2013). Regular left cervical lymph node and groin lymph pain, stiff neck, with internal blocked sensation

GI: lower abdominal pain, gas, intermittent diarrhoea, nausea, occasional rectal bleeding, urethral burning, rectal ache, back of throat ache, rectal itching

Continued…
Fatigue — exercise improves, or neutral. Bad sleep severely effects

Erectile dysfunction — absent on waking, non-responsive to PDE5 inhibitors

Difficulty concentrating, cognitive slowing

Vibration/frog noise/sensation rising through the throat

*Bug-bite-like rashes — erythematous, raised, non-pruritic, lasting hours, concurrent with flares

Knee pain during flare 

Notes (I have lab documents for these)
Antihistamines failed (ketotifen/cetirizine/monteluklast, famotidine, loratadine, fexofenadine) — rules out primary MCAS?

CRP 0.5 mg/l is normal between flares 

Normal CBC, metabolic panel, TSH, HbA1c, testosterone, LH, cortisol/Synacthen

Colonoscopy and endoscopy with biopsies: normal (2019 and 2025). Normal calprotectin. 

Probiotics provide some relief, but then heavy symptoms

OJ helps burning feeling, headaches and sleeplessness caused by alcohol and nitrite

Tried multiple elimination diets

Lymphopenia (.75g/l) but maybe irrelevant

Immunomodulator response, food response and flare-associated rash, lifelong history since infancy, are inconsistent with functional illness

Ideas
Incomplete/atypical Autoinflammatory (lack of fevers, which seems exclusionary)

Secondary MCAS

Ask for:
⭐️Rheumatology referral

Immunological panel: ANA, ANCA, complement C3/C4, SAA, SPEP. 

Baseline serum tryptase

24-hour urine: histamine, N-methylhistamine, prostaglandin D2

Periodic fever panel (TNFRSF1A, NLRP3, MVK, CECR1, NOD2, all FMF/MEFV variants including E148Q, Yao)

Colchicine 0.6mg BID prescription

Anakinra

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u/Steph_Arabian — 1 day ago

Like the thread title. Please help diagnose me 🙂

Who You Are
31. Male. Armenian. Non smoker. 88kg. 198cm. MSc Nutrition Science. Zurich. Lifelong systemic illness since childhood. Hospitalised at age 1 with systemic bacterial infection.

What A Flare Looks Like
Flares are triggered by foods, such as peanut butter, walnuts, sauerkraut, yoghurt, UHT milk, and other proteins, with severity proportional to the amount consumed. Onset begins within a few hours of exposure, peaking over several days. Symptoms include chills, fatigue, feverish feeling, sore throat, burning ears, runny nose, red eyes, stomach irritation, nausea, irritability, and stiff internal neck with lymph node pain. There is no fever. 

Flares also occur spontaneously without any food trigger, and most symptoms present at baseline to some capacity.

Without rescue treatment, flares persist for weeks. The only reliable rescue is azithromycin (2 x 250mg spaced over a few days). Azithromycin works every time without exception. Prednisone provides some relief (3 days to work). But prednisone relief is incomplete.

Even after exposure stops, the flare continues, and it is unclear whether it ever fully resolves on its own anymore.​​​​​​​​​​​​​​​​ Quercetin also provided notable relief (3 days to work). Felt like healing even compared to azith which just stops flares. But then tacphylaxis.

Symptom Clusters During Flare
Flu / Infection Feeling: Chills, hot flu-like sensation, sore throat, burning ears, runny nose, red eyes, thigh and skin itching

Headache/Burning: Temporal headache and pressure, burning hands, abdomen (worsened by omega-3s, relieved by aspirin and quercetin)

Lymph / Neck: Left cervical lymph node pain, stiff neck, internal blocked sensation

GI: lower abdominal pain, gas, intermittent diarrhoea, nausea, occasional rectal bleeding, urethral burning, rectal ache, back top of throat ache, extreme rectal itching

Continued…
Fatigue — exercise improves. Bad sleep severely effects

Erectile dysfunction — absent on waking, non-responsive to PDE5 inhibitors

Difficulty concentrating, cognitive slowing

Vibration/frog noise/sensation rising through the throat

*Bug-bite-like rashes — erythematous, raised, non-pruritic, lasting hours, concurrent with flares (during flares too)

Notes (I have lab documents for these)
Antihistamines failed (ketotifen/cetirizine) — rules out primary histamine/allergic mechanism (MCAS)

Absolute lymphopenia 0.75 G/l (ref 0.9–3.3) — USB Basel November 2025

CRP 0.5 mg/l is normal between flares 

Normal CBC, metabolic panel, TSH, HbA1c, testosterone, LH, cortisol/Synacthen

Colonoscopy and endoscopy with biopsies: normal (2019 and 2025). Normal calprotectin. 

Common MEFV variants negative on 23andMe (M680I, M694V, V726A, K695R, A744S) not E148Q

Probiotics provide some relief, but then heavy symptoms

OJ helps burning feeling, headaches and sleeplessness caused by alcohol and nitrite

Lymphopenia, immunomodulator response, food response and flare-associated rash, lifelong history since infancy, are inconsistent with functional illness

Ideas
Incomplete/Atypical FMF, TRAPS, CAPS

Immune undifferentiated

Secondary MCAS

Ask for:
Rheumatology referral

Immunological panel: IgG, IgA, IgM, ANA, ANCA, complement C3/C4, SAA, SPEP. Cannot locate these in my USB documents despite reference to immunological workup in clinical letter

Baseline serum tryptase

24-hour urine: histamine, N-methylhistamine, prostaglandin D2

Lymphocyte subsets: CD4, CD8, NK, B cells (follow-up documented lymphopenia 0.75 G/l)

Periodic fever genetic panel: TNFRSF1A, NLRP3, full MEFV including E148Q

Colchicine 0.6mg BID prescription

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u/Steph_Arabian — 18 days ago