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I learned an interesting #clinicalpearl today!
Did you know that in Wilson Disease, despite high ALT/AST/bilirubin, Alkaline Phosphatase (AP) stays normal or low?
It made me ask "why," & so, I present the answers I found in #tweetorial form.
A rare non-derm, #medtwitter 🧵
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Did you know that in Wilson Disease, despite high ALT/AST/bilirubin, Alkaline Phosphatase (AP) stays normal or low?
It made me ask "why," & so, I present the answers I found in #tweetorial form.
A rare non-derm, #medtwitter 🧵
1/
Let's start by establishing that Wilson Disease is a multisystem process wherein copper deposits in various tissues (liver, brain, eyes) because of improper transport.
A mutation in ATP7B causes this, and the depositional process leads to disease manifestations.
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A mutation in ATP7B causes this, and the depositional process leads to disease manifestations.
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Given the organs Cu2+ deposits in, you see neurologic effects, Kayser Fleischer rings in the eyes, and of course, liver disease.
While here👇, we see the always memorized, rarely seen, Kayser Fleischer rings, let's focus on the liver...
PC: nejm.org/doi/full/10.10…
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While here👇, we see the always memorized, rarely seen, Kayser Fleischer rings, let's focus on the liver...
PC: nejm.org/doi/full/10.10…
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