VEXAS Syndrome, Part 2
"Let me explain it to you slowly first."
I had a duty to properly explain why this disease perfectly matched the patient's current condition.
"I stumbled across it while reading some case reports... and it looks just like this rare disease."
"Yeah. Go ahead, let's hear it."
I let out a deep sigh and opened UpToDate along with a few other medical database sites.
Be rational. I was a doctor, not a shaman diagnosing people by gut feeling.
Grounding. Evidence. Evidence! That was everything.
"Let's see what we have in these records."
The patient had received symptomatic treatment for cold-like symptoms at a local clinic but showed no improvement. They were admitted to a secondary regional hospital with a chief complaint of severe generalized fatigue, polyarthralgia, myalgia, and weight loss spanning over three months...
I scrolled down. The screen was packed with a dense wall of lab results.
"At the very beginning, the white blood cell count was at the lower limit of normal, platelets were normal, but hemoglobin had dropped to 8.2..."
At the same time, vitamin B12, folate, and thyroid function tests were all normal.
"It looks like the secondary hospital initially suspected an infection."
"Yeah, that makes sense. But hey, I'm a bit busy right now. Let's talk in a bit."
"Ah, yeah, sure. Talk to you later."
That actually worked out better for me. It gave me time to properly piece the puzzle together.
The CRP (C-reactive protein), ESR (erythrocyte sedimentation rate), and ferritin levels all pointed to severe systemic inflammation.
Hmm.
'The secondary hospital put them on antibiotics.'
The records showed they had administered a third-generation cephalosporin and a macrolide, keeping the possibilities of pneumonia and sepsis in mind.
They had run blood cultures and a respiratory viral panel, but... the results were completely negative.
Despite the drugs, the high fever and respiratory symptoms didn't budge.
'So steroids worked, but the symptoms flared up again as soon as they tapered the dose, which is why they transferred to our hospital.'
Click.
I opened UpToDate again. The diagnostic criteria section for VEXAS syndrome.
Somatic UBA1 gene mutation in myeloid cells.
Well, we could only find this out through genetic testing. Since we couldn't check that right now, I skipped it.
'Anemia is a near-universal finding. Progressive thrombocytopenia may also be observed...'
"...Near-universal finding."
It meant almost every patient had it. Check. Our patient was definitely anemic.
I went back to the chart.
'Severe bilateral periorbital edema was noted on the face.'
And the patient exhibited a cytokine-mediated inflammatory state. That was why they had given steroids...
'And their condition improved.'
But the hemoglobin level remained stagnant at 8.4.
'And the macrocytosis wasn't corrected at all.'
Click.
Eye pain noted on day 15 of admission. Ophthalmology consult result: episcleritis.
Click.
Right auricular polychondritis.
Click.
Skin rash suspicious for neutrophilic dermatosis. And macrocytic anemia.
Every single symptom of VEXAS listed on the UpToDate screen overlapped perfectly, word for word, with the patient's records.
'The anemia worsened again. If so...'
Frequent relapses even on a maintenance dose of prednisolone over 10 mg, coupled with such strong steroid dependence, meant this was definitely not a typical autoimmune disease.
Wait, why was I spending so much energy looking at someone else's patient anyway? Whatever.
'Looks like VEXAS.' The bastard who left that comment had recognized this in a single second, just by looking at a few lines of patient info.
Even though I had basically cheated by looking at the answer sheet, I had to go through all this trouble just to realize that the answer was correct.
Doubt turned into absolute certainty.
'This is it.' I picked up my phone again.
Once the information was passed along, I was finally able to breathe a sigh of relief after hearing Kang Tae-jin's excited response.
Whew... I decided to save my theories about the gallery for when I got home. I was waiting for Tae-jin in front of the elevators on the floor where the Internal Medicine residents' office was located.
Tae-jin came trudging out, his shoulders slumped.
"Hyeon-jae."
"What's up?"
"I got shot down."
...? What?
"You got shot down?"
"Nam Seung-hyeon, the third-year, asked me what kind of weird stuff I'd been reading. I tried to explain my logic... but seriously, this is so obviously VEXAS. No response to antibiotics, heavy steroid dependence, relapsing polychondritis, and macrocytic anemia. It fits perfectly."
I pondered for a moment before reaching a conclusion.
"Tae-jin."
"Yeah?"
If the front gate is locked, you climb over the wall.
'Which department handles this? Autoinflammatory diseases... that falls under Rheumatology.'
Since he had been rejected by his senior Internal Medicine resident, there was only one way forward.
Going straight to the Rheumatology professor.
It was practically a suicide mission.
A mere first-year bypassing the chief resident and the fellow to call a professor directly was a direct challenge to the hospital's rigid hierarchy.
But it didn't matter. There was a patient to save, and I had the method to save them in my head.
I looked up the name of the Rheumatology professor on call.
"Let's call the professor."
"What?"
"Let's bypass them and go straight to the professor."
Kang Tae-jin looked at me in utter horror.
"Dude, no matter how urgent this is..."
"We finally grabbed a clue to diagnose a patient who's been hospitalized for weeks. Are you just going to let it go?"
"Well... no, I don't want to do that."
I took a deep breath. Whew.
Rheumatology Clinical Assistant Professor Choi Yeong-jun
Inhale. Okay.
"Tae-jin."
"Yeah?"
"Are you going to explain it?"
"Ah, well... yeah, I'll do it. I already did my Rheumatology rotation."
I watched Kang Tae-jin pull out his phone. With trembling hands, he pressed the call button.
"...Hello?"
A voice thick with exhaustion answered. Tae-jin forced himself to speak calmly.
"Hello, Professor. I am terribly sorry to call you so late. I am Kang Tae-jin, a first-year Internal Medicine resident."
"A first-year? What is this about?"
The voice over the receiver carried a mix of confusion and slight irritation.
"It's... about the patient with chart number 26110134."
"Hold on. Let me pull it up. Read that chart number to me again."
"It's patient 26110134."
"And what about this patient?"
I mouthed the words: V.E.X.A.S. Say it. Say the word.
"In my opinion..."
Tae-jin took another deep breath. There was no turning back now; the bridge behind us was already ashes. Keep moving forward.
"I'm calling because I suspect VEXAS syndrome."
Silence.
"...What? VEXAS? Did you report this to your senior resident?"
His voice was trembling slightly.
"Ah, yes... Well, Dr. Nam Seung-hyeon told me to rule out the basics first, but the patient's clinical presentation matches too perfectly. I thought you might need to see them in person... Is there any lab order I should place before you arrive?"
"I'm on my way right now. Wait there, Dr. Kang."
Click. The line went dead.
Tae-jin looked at me, shaking.
"Are we really going to be okay?"
"Well... if we go down, we go down together. That's what classmates are for."
Crazy bastard. I was a total lunatic. What on earth had I just done?
A mere first-year Emergency Medicine resident had just coaxed his Internal Medicine friend into bypassing a god-like third-year senior to call a professor directly.
The moment Professor Choi Yeong-jun dismissed our theory as nonsense, I would be branded as an arrogant, brainless psycho and my career would be over.
I looked around. I could feel a few staff members stealing glances at me. Their eyes held a mix of emotions.
That guy's got some serious balls. He's about to get absolutely shredded. This is going to be fun to watch. That kind of look.
Five minutes passed. Then ten. Every second felt like a decade.
I nervously fiddled with my phone, staring down the end of the hallway with Tae-jin. Cold sweat trickled down my spine.
Did he just dismiss it as a first-year's delusion and ignore us? Just as all sorts of worst-case scenarios were running rampant in my mind—
The elevator doors slid open, and a man stepped out.
A man in his late thirties or early forties. He was a young professor who exuded an aura that practically screamed, I am a completely different breed of human than you slaves.
Rheumatology Clinical Assistant Professor Choi Yeong-jun.
Professor Choi scanned the area once before walking straight toward me. My heart dropped into my stomach.
"Are you Dr. Kang Tae-jin?"
"Ah... No, I'm Han Hyeon-jae from Emergency Medicine."
"Ah. Dr. Kang Tae-jin?"
"I'm Kang Tae-jin, first-year Internal Medicine!"
Tae-jin glanced at me. Oh, is he telling me to run away? Quick-witted of him.
"Why is an EM resident here?"
The atmosphere grew chilly. Tae-jin agonized over his words before finally opening his mouth.
"Well... actually, he was the one who first suggested VEXAS."
Professor Choi's eyes shifted, landing on my ID badge.
"...Dr. Han Hyeon-jae?"
"Yes, Professor! I am Han Hyeon-jae!"
I bowed at a perfect ninety-degree angle. Professor Choi barely acknowledged my greeting as he headed straight toward the ward's nursing station.
"What are you doing? Aren't you coming, Dr. Han?"
Ah, damn it. I couldn't exactly say, Uh, I don't really belong in there, so I just quietly followed him in.
From the records of the previous hospital to the notes Tae-jin had scribbled down after listening to me, Professor Choi began reviewing everything with meticulous care.
Was my diagnosis correct? No, it wasn't even my diagnosis to begin with. It was just a comment from some faceless, deceased medical scientist. What if it was all wrong?
After examining the patient for what felt like an eternity, Professor Choi stood up.
"Hmm..."
"Dr. Han. VEXAS is a disease that was only properly defined a few years ago. You must have a keen interest in the latest medical literature."
My mind went completely blank. Interest? I didn't give a single crap. Latest literature my foot—I could barely remember what I ate yesterday.
But how could I possibly tell him that this was all thanks to a crazy online forum floating in my head?
My mouth, perfectly socialized by a grueling year of residency training, instinctively spat out the ideal answer.
"Yes, Professor! I have always had a deep interest in rheumatologic diseases, so I make sure to look up related papers whenever I have free time! I believe it is only natural for a doctor to constantly acquire new knowledge!"
The smooth-talking flattery and lies poured out of me so naturally that it gave me goosebumps.
Professor Choi let out a short chuckle at my response. I couldn't tell if it was a smirk mocking my audacity or a smirk of genuine amusement.
"Good. I like that attitude."
Before I knew it, Professor Choi was already entering orders for various tests.
"Let's order a bone marrow biopsy, Sanger sequencing, and NGS. Let's go with that."
A first-year resident—and an Emergency Medicine resident at that—had accurately pinpointed a rare rheumatologic disease and even summoned a professor to get the diagnostic tests ordered.
This was an event destined to become a legend in the ER.
Having finished all his instructions, Professor Choi adjusted his white coat and turned back to look at me.
"You said your name was Han Hyeon-jae, right?"
"Yes, Professor."
"Good job, first of all. It's hard to make a definitive diagnosis based on clinical symptoms alone... but they do align. Refractoriness to conventional immunosuppressants, polychondritis, histiocytoid skin lesions, macrocytic anemia. At least in my view, the clinical presentation is consistent with VEXAS."
With those parting words, Professor Choi left the ward as coolly and abruptly as he had arrived.
I stared blankly at the end of the hallway. As the tension drained from my body, my legs began to tremble.
A warm sensation began to swell inside my hollow chest.
Now, it was time to figure out how to properly exploit these crazy bastards.