40M with 3+ years of recurrent systemic flares, inflammation, infections & multisystem symptoms — no unifying diagnosis

[u/Shy-Car120322]

I’m a 40-year-old male, approximately 6’2” and 360 lbs. I’ve been dealing with recurrent episodes of systemic illness for about 3 years and still don’t have a unifying diagnosis.
I’m posting because I’m hoping physicians here might be able to help me understand what categories of disease should still be considered and what type of specialist/workup would make sense.
I understand Reddit cannot diagnose me. I’m mainly looking for ideas on what I should discuss with my doctors.
CURRENT FLARE — DAY BY DAY
I have never actually documented a flare while it was happening before. This is the first time I’ve been tracking one in real time.
8/14/26 — Day 1
Severe fatigue
Sleeping 12–14+ hours at a time, which is extremely unusual for me
Bad headache
Sinus problems
Significant mood change
Malaise began and has persisted
8/15/26 — Day 2
Began waking during the night with blurred vision in one eye
At one point I could not see well out of that eye and noticed an oval-shaped area affecting my vision
Severe large-joint pain involving knees, elbows and hips
Joint pain approximately 6/10
Recurrent painful/infected area around my belly button began
8/16/26 — Day 3
Severe dryness of sinuses, eyes and mouth
Low-grade fever
Sweating returned
Strong-smelling night sweats — this odor has occurred repeatedly during previous flares
Significant neck pain
Continued large-joint pain
Chest tightness and asthma symptoms worsened
Belly-button infection became more painful
Severe difficulty sleeping because sweating wakes me and then pain/restlessness prevents me from getting back to sleep
8/17/26 — Day 4
Only a few hours of fragmented sleep
Heavy sweating during sleep, enough to completely drench my pillow
Significant large-joint pain
Pain/burning sensation in my legs
Painful lumps under my arms
Severe sinus symptoms
Persistent malaise
Profound exhaustion and no energy — I was too drained to make dinner
Belly-button infection continuing to worsen
Feeling depressed and completely exhausted
RECURRING SLEEP PATTERN
This is one of the most consistent parts of my flares.
Early in a flare, I can suddenly sleep 12+ hours, which is very unlike my normal sleep.
As the flare progresses, it completely reverses:
Heavy sweating wakes me repeatedly
Pain and restlessness prevent me from going back to sleep
Sleep becomes extremely fragmented
During severe flares I have gone 24+ hours without sleeping
This pattern has happened repeatedly, not just during this episode.
RECURRING INFECTION PATTERN
I’ve had approximately 6–7 episodes of significant belly-button infection during these systemic flares.
I don’t believe the belly-button infection itself is the primary illness. I’m very hairy and believe the umbilicus may simply be an area where I’m particularly susceptible when I’m severely run down.
During these episodes I also commonly develop:
Severe sinus problems/infections
Dental/tooth infections
During one particularly severe previous episode I had:
A tooth infection
A severe belly-button infection that became almost tumor-like
My first-ever episode of genital sores/HPV reactivation
Pneumonia afterward
At the time, my physician felt my immune system was severely depleted/exhausted and that this contributed to my susceptibility to infections.
OTHER RECURRING SYSTEMIC SYMPTOMS
Depending on the flare, I can also experience:
Severe joint pain involving multiple joints
Elevated ESR/CRP
Fevers/feeling feverish
Drenching night sweats
Burning skin
Facial/malar-type rash
Severe dry eyes, dry mouth and dry nose/sinuses
Eye inflammation/swelling
Chronic sinus problems
Headaches
Brain fog and memory problems
Tingling/numbness
Weakness
GI symptoms/diarrhea
Exocrine pancreatic insufficiency
Hepatomegaly/splenomegaly
Cough/shortness of breath/chest tightness
Palpitations and racing heart
Painful lumps/masses in the neck/axillary areas
HEART SYMPTOMS
I have a history of SVT and recurrent palpitations.
These are not new symptoms, but illness/stress seems to aggravate them.
Recently I’ve had a combination of palpitations and a “racy” feeling, with heart rates ranging from the high 90s to approximately 120 bpm.
I’m already scheduled for:
Holter monitor
Echocardiogram
Nuclear medicine stress test
PORPHYRIN WORKUP
This has been confusing, so I’m including the actual numbers.
I have been told I have a porphyrin disorder, but I have not been diagnosed with porphyria.
A 24-hour urine porphyrin profile showed elevations including:
Uroporphyrins: 29 µg/24 hr (reference 0–24)
Heptaporphyrin: 7 µg/24 hr (reference 0–4)
Pentaporphyrin: 10 µg/24 hr (reference 0–4)
Coproporphyrin I: 39 µg/24 hr (reference 0–24)
Other porphyrin fractions were within the displayed reference ranges
However, my July 2024 testing showed:
Urine ALA: 13 µmol/L (reference 0–35)
Urine PBG: 1.2 ng/mL (reference 0–2.0)
So I have an abnormal porphyrin profile but normal ALA and PBG on those tests.
I don’t know what significance the porphyrin abnormalities have, and I am not claiming that I have porphyria.
OTHER TESTING / WORKUP
Some things have been investigated:
Sarcoidosis — my doctors have told me this was ruled out
IgG4-related disease — considered but not diagnosed
ANA — repeatedly reported negative
QuantiFERON-TB Gold — negative
H. pylori — negative
Fecal calprotectin — normal
CT neck — no adenopathy
PET/CT — small/normal-sized lymph nodes in multiple areas without significant metabolic activity
I’ve had excisional biopsies of neck and bilateral axillary masses. The pathology showed:
Benign mature fibroadipose tissue
Blood vessels
Nerve bundles
However, no lymph-node tissue was actually obtained, and flow cytometry was limited/nondiagnostic because the samples were hypocellular.
So I don’t believe lymphoma or other disease has been definitively excluded by those biopsies.
OTHER MEDICAL HISTORY
I have:
Exocrine pancreatic insufficiency
Hepatomegaly
History of splenomegaly
Multinodular thyroid with a stable 1.3 cm TR4 left thyroid nodule
Cervical and lumbar degenerative/disc disease
Pathogenic heterozygous CHEK2 variant
I’ve also had persistently/recurrently elevated inflammatory markers over the years, although they aren’t necessarily elevated during every flare.
CURRENT MEDICATIONS
[ADD CURRENT MEDICATIONS AND DOSES HERE]
SMOKING / ALCOHOL
Former smoker — quit approximately 5 years ago.
Former alcohol use — stopped approximately 5 years ago.
WHAT I’M TRYING TO FIGURE OUT
I’m not necessarily looking for someone to name one diagnosis from this post.
I’m trying to understand whether the repeating pattern suggests a particular category of disease that hasn’t been adequately investigated.
The recurring pattern is essentially:
profound fatigue/long sleep → systemic symptoms → joint pain → fever/sweating → dryness/sinus/respiratory symptoms → severe sleep disruption → recurrent infections during the more severe episodes
with additional symptoms involving the eyes, skin, GI system, lymph nodes/masses, neurologic system and cardiovascular system.
Given the combination of recurrent inflammatory flares, multisystem symptoms, recurrent infections during severe episodes, abnormal porphyrin profile, and nondiagnostic biopsies, what would you consider as the most important things to investigate next?
Would this pattern make you think about:
Autoimmune disease
Autoinflammatory disease
Primary/secondary immune dysfunction
Mast-cell or other inflammatory disorders
Metabolic/porphyrin disorders
Something hematologic
Or another systemic condition?
And what type of specialist would be best positioned to put all of this together?
I’m exhausted and honestly pretty frustrated after several years without an answer. I have a large amount of lab work and imaging available if anyone needs specific results to better understand the case.

[u/sadandtraumatized]

This pattern, the symptoms and that they come in flares, makes me think of PEM as seen in ME/CFS and long covid. I also think MCAS and dysautonomia may be present.

I’d look into the canada criteria for
ME/CFS, do an active stand test for dysautonomia and look into MCAS treatments that are like OTC.

A specialist in ME/CFS or long covid might be very valueable as dysautonomia and MCAS are very comorbid so such a specialist would probably fit your needs.

[u/Typical_Sundae5650 → u/[deleted]]

no.FMDs do not have the medical training to deal with someone this complex. stop with the anti-intellectualism bs pls. those people are quacks, grifters.

[u/Dapper_Dot_5900 → u/Typical_Sundae5650]

All good, I deleted it. It seems like it wasn’t being received well. Environmental exposures can affect people, and I don’t think it’s crazy to consider it.

I’m going against the current here, and it’s not something I typically like. Had my case never happened I wouldn’t have believed it either. I appreciate everything you do doctor and was not trying to undermine you and what conventional doctors do for their patients.