Now over the past few weeks we've been discussing all kinds of enzymatic problems that have led to red blood cell lysis,

hemalysis, and we've called this series, it's all in the blood.

And if you've noticed a trend, it's usually something to do that's a genetic inherited disorder that then leads to a protein change, which then leads to a problem in the red blood cells.

And so therefore, we've learned through our basic sciences that these enzymes play a critical role

and without them so many of our processes would not be able to occur

and without the evolution of these things

our species would cease to exist.

What these reviews have also shown us is that sometimes genetic mutations occur and they lead to

problems.

However, not every mutation leads to a pathologic diagnosis that the patient has to do something about.

There are conditions and enzymatic processes that do become aberrant that lead to something that's basically just a benign outcome, but it's going to cause you a lot of issues in the clinic.

It's a super confusing topic. Many of you have experienced these patients and you're not 100% sure what to do about it.

So I figured let's talk about it this week. I'm

Dr. Nakeets Lundpong your friendly-neabered internist

gastrantroologist and we're gonna be talking about Jill Bear's

syndrome. So let's cue that music. Can we make it French? The guy who discovered it was French. I guess the music can't be French, but that's okay. We'll work on that for next time.

Now the guy who discovered it, his name was Augustine Nicholas Gilbert, and he figured it out in

1901.

It wasn't just Emily who was in Paris, he was there too, and he figured out this thing called

Gilbert's Syndrome.

And why is it so important?

Well, first of all, we're going to see these patients in the office very frequently,

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