Hemochromatosis

Sometime ago, when we were in training, there were a lot of diseases we were exposed to that were rare and difficult to understand. 

Over time we did practice questions, went through rotations, and eventually, these diseases that were once difficult, were no longer as hard.

It's funny what we learn in school as we get exposed to a great deal of diseases, syndromes, and disorders that are rare and incredibly interesting.

Each disease feels like an episode of House. But, when you get into the "real world", you realize those rare diseases that were once so interesting, don't seem to show up as often as we thought they would.

But, when they do, it causes a little discomfort, because we remember some of it. We think we know something. But, we aren't completely sure we have the answer.

And that's why I decided to do today's podcast on a disease that we all remember. This disease affects various organs and can masquerade as so many things. 

Today, we'll be discussing hereditary hemochromatosis.

That's right you remember this one. It's an autosomal recessive issue that disrupts all iron homeostasis and leads to an increase in systemic iron overload.

It turns out that this thing affects as the liver, pancreas, joints, heart, skin, and even the pituitary gland. 

So, whatever field you're in...

...whatever level of medicine you're training in...

...hereditary hemochromatosis is something you may come across. Sometimes the patient's ferritin is going to be elevated and you don't know if it's an acute phase reactant or if it's the real deal.

So, ladies and gentlemen, I'm Dr. Niket Sonpal - your friendly neighborhood internist and gastroenterologist. As someone who is trained in liver diseases, I can tell you I've only seen less than a handful of these cases. But, when it does walk in your door, you'll want to be prepared. 

So, let's jump right in!

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