19. The Heat

 

        ‘So, Mr. Fitzgerald, right?’

‘Fitz is fine.’ The young man started laughing. ‘Fitzgerald doesn’t suit me, I’m 19.’

‘Fair enough.’ I smiled. ‘My name is Lisa Diaz and I’ll be one of your doctors from now on, okay? Can you walk me through what happened real quick?’

Fitz was first admitted because he had passed out during a basketball game. He was brought to the hospital with a temperature of 104 which made the case for an exertional heatstroke.

        He was cooled off by the ED physicians but they decided to admit him because his temperature kept coming back up with apparently no reason. Besides, his creatinine wasn’t dropping back to normal as expected after hydration.

        ‘Have you ever had anything like that before?’

        ‘Passing out? No, never… But I get fevers from time to time.’

        ‘Really? And why is that? Have you ever seen a doctor for it?’

        ‘Many times. They don’t seem to know why though.’ He shrugged his shoulders as he ate his breakfast.

        ‘And do you have any other symptoms? Not today specifically, but when you have those fevers.’ I was beginning to think there was more to it than just the game.

        ‘Well, usually I get those when I work out so much my hands and feet are painful. I am used to it actually, I’ve had those since I was a kid.’ 

Huh. I was happy to find out something but I didn’t know what to do with that information yet. On his physical, there was nothing out of the ordinary except for some skin lesions on his legs.

        

        I went on to find Kate and the boys at the cafeteria. They were already eating when I arrived.

        ‘I can’t believe the great Dr. Lisa Diaz is late.’ Jax teased.

        ‘This doesn’t count Jackson. I was with a patient.’ I pushed him. ‘And by the way, he was almost supposed to be your patient. He’s 19.’

        ‘Oh, Fitzgerald, right? Weird case.’ Kate said.  

        ‘What does he have?’ Peter asked while biting his croissant.

        ‘He had a heat stroke during a basketball game.’ Kate started. ‘But the weird part is that he’s still having fevers, and his creatinine is still high after hydration.’

        ‘And now he told me that he constantly has fevers from time to time at home.’ I said.

        ‘Wow. And no other symptoms?’ Jax asked.

        ‘He said he correlates the fevers with working out, which also causes him pain in his hands and feet… And he has some skin lesions but I don’t know what it is.’

‘Those in his legs? They are angiokeratomas.’ Kate sipped her coffee while all of us stared at her. ‘What?’ She asked.

‘How do you know that?’ I broke the silence.

‘What can I say? I’m kind of a derm nerd.’

‘And you never thought to mention it?’ Jax said and we all started laughing.

‘Who’s the nerd now.’ I played. ‘From now on you are our derm consultant.’

‘Fine, fine, stop the teasing and let’s go back to the case.’ Kate said.

‘You know what I think is weird… How come he had a heat stroke? It’s not even that warm these days.’

Peter had a really good point.

‘You’re right, it’s not that hot and it’s not so common to have an exertional heat stroke indoors.’ I said. ‘Unless…’

‘Unless he’s not sweating!’ Jax and I said almost at the same time.

‘I think we just missed the eureka moment.’ Peter whispered to Kate.

‘Fabry disease. Hand and feet pain, decreased sweating, angiokeratomas…’ I pointed to Kate. ‘It even explains why his creatinine won’t go back to normal.’

‘My God, I can’t believe we figured this out.’ Jax started laughing. ‘We are pretty smart together, we should do this more often. He got up. ‘Gotta go, let me know how it turns out.’

Kate and I studied more about Fabry and it did fit in his case. We discussed it with Dr. Rivers and he agreed with our hypothesis. Fitz was discharged soon after that and he later underwent genetic testing which confirmed he had α galactosidase A deficiency. Luckily this enzyme can be replaced, although he kept dealing with his disease for life.

We ended up publishing his case, the four of us. Jax was right, we made a pretty good clinical team. We even had a derm girl.

…

Want to know more about Fabry Disease?

https://rarediseases.org/rare-diseases/fabry-disease/

Want to read a real case of Fabry Disease?

https://www.frontiersin.org/articles/10.3389/fgene.2021.657824/full

Clinical Board

 

XR: X-linked recessive; def: deficiency; SS: signs and symptoms; Tt: treatment.