21. The Why



Jax and I were enjoying our second year. Sure, you have more responsibilities, but you also feel more confident as time goes by. This can be good but it can also be tricky, you can miss simple stuff. One patient made me think of that. Well, one patient and one doctor.


Manny was in his fifties. He had no health issues except for alcoholism, although he didn't really go to the doctor that much to know if he had any health problems. He went to the hospital because "his belly and feet were getting swollen". In fact he was right. He had ascites and bilateral edema in his legs. Was his liver finally giving up? I thought so.

To support my theory his transaminases came back elevated. He had already been started on diuretics and was showing some improvement. Today was the first day he was on the floor transferred from the ED. Pretty straightforward case, right? Wrong.


Dr. Rivers wasn't there that day. He had caught the flu and they sent a new doctor to cover for him. Imagine my surprise when I saw that Lucy was the one covering for him.

'Oh my God, Dr. Collins!' I gave her a hug. 'I missed you.'

'Missed you too, Lisa! You and Peter. Where is he by the way?'

'Oh, I think this week he's at the outpatient clinic. But you've met Kate, right?'

'Sure! We've had a lot of fun together, right?' She winked at her. 'Are you guys ready for rounds?'


Kate started with her patients and I followed with a few others. It was nice to see Lucy again, I started realizing how much I had improved from intern year. I could see how my reasoning was clearer and my plans more accurate. However, I still had a long way to go.

When it came to Manny I explained everything that was going on and his most relevant labs. Then she raised some questions I hadn't thought of.

'But why?' Lucy asked.

'Why what?' I smiled.

'Why are his transaminases high and everything else is normal? Coagulation panel, albumin, bilirubin. Isn't it weird? If this edema really is from his liver, you would expect his liver function tests to be altered, right?'

'Right.'

'So, what else could cause that?'

'Heart, kidney.' Kate said.

'Exactly. His creatinine is borderline normal so less likely. And then a question remains on the physical exam which could help us differentiate. What is it?' Lucy asked and we silenced. She then pointed to her neck.

'Jugular vein distension.' I said. 'I don't know if he has it, I'll check.'

'No problem, you can go check it soon. And if he does have it, heart failure could explain fluid build-up and congestion in the liver, which can cause elevation of transaminases. If it was really hepatic failure or inflammation I would expect jaundice, abnormal coagulation or proteins.' Lucy got up and gathered her things. 'I'll go for a coffee and I'll meet you guys later so we can finish together, okay?'


Lucy Collins was right once again. His jugular vein was a little distended and I ordered an echocardiogram. Before I left the room I decided to reexamine him. I could almost hear Lucy saying 'But why? Why was his heart failing?' And imaginary Lucy had a point.

Yes, it could be alcohol-related. But it wouldn't hurt to check.


I found that Manny had some petechiae around his eyes which didn't make a lot of sense since his platelets and coagulation profile were normal. Besides that, I couldn't see a lot that could help me diagnose anything different. I was reaching a dead end.


Like every dead end, nothing like coffee to solve it. I met Kate in the cafeteria chatting with Jax.

'So?' She asked me. 'How was it?'

'Distended.' I opened up a shy smile. 'I ordered the Echo, but we all know it will come with heart failure now.' I sat at the table.

'So why do you still look so bummed?' Kate pushed me jokingly.

'Why do you think?' Jax stepped in. 'She doesn't know why.' He raised an eyebrow. 'And nerds have a hard time with that.' He teased me. 

'Well, let's figure it out then.' Kate smiled. 'His HF could be due to alcohol, but I am guessing you already thought of that, right?'

'Yeah, it could. But what if it's not? What else could it be?'

'Okay, could it be ischemic?' Jax began.

'Possible but unlikely. His ECG is normal and he never had chest pain, I asked.' I said.

'Does he have any other symptoms or labs that could lead us somewhere?' Jax replied.

'Well, he has some petechiae in his face.' I said.

'And slight proteinuria.' Kate yawned.

'Still, not normal right? He is not diabetic or has any reason to have proteinuria. Maybe something systemic?' Jax asked.

'Maybe.' I had an idea. 'You just made me think of something. Let's go check his Echo, it might help.'

'How will it help? You said it yourself that it will show HF.' Kate said.

'You'll see if it does.' I smiled.

'Let me know when you guys figure it out. Gotta run.' Jax finished his donuts in one bite and left.


His echocardiogram showed diastolic HF indeed, but it also showed left ventricular hypertrophy.

'See?' I told Kate with a smile.

'See what?' She laughed. 'How does that help with anything?'

'Remember what Lucy said. You gotta ask why. Why is his ventricle hypertrophied? He doesn't have hypertension, and alcohol doesn't cause that.'

Kate kept a serious face while thinking.

'Remember everything else he has. Petechiae, proteinuria, HF, ventricular hypertrophy…'

'Amyloidosis!' She yelled a little louder than usual. 'Oh my God, I can't believe we thought of that.' She laughed. 'And you know what, I think he even has an enlarged tongue.'

'Right? Let's break it to Lucy, she will love it.'


'Good job, girls!' Lucy smiled proudly. 'See? It is way more fun when we ask why.'





Want to know more about Systemic Amyloidosis?

https://rarediseases.org/rare-diseases/amyloidosis/


Want to read a real case of Systemic Amyloidosis?

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6448069/







Clinical Board
 
SS: signs and symptoms; HF: heart failure; LV: left ventricular; w/o: without; HTN: hypertension; Dx: diagnosis; Tt: treatment.

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