Hereditary Hemochromatosis

by Carlo Raj, MD

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    Autosomal recessive; increased intestinal iron absorption is the pathogenesis for hereditary hemochromatosis affects middle aged men with the bronzing. With that basically, means this individual, take a look at your patient, and you say, my goodness! You spent a lot of time on the tanning salon didn't you? Actually doc, I never did. I actually never come out of my room because I had this amazing Playstation. So, therefore you should never come out of the room but you look bronze and there is a history in which you start seeing damage to the liver. Oh, boy! You see hyperglycemia. There is no history of transfusion ever in this patient. You're thinking about a Hereditary Hemochromatosis. You talked about this on hematology as well. Where our topics there included HFE hereditary FE (iron) and then also our topic would hepcidine and feraportin. Big time for your boards, the understanding of this disease is showing up on your boards. We'll talk further about hemacromatosis And I'll walk you through real quick once again, hereditary and primary. Let's continue. Under hereditary liver disease, let's say that it is being caused by hemochromatosis. Here, you expect to find High ferritin. iron saturation with iron overload, we've talked about this in hematology, hence I'm not going to great detail. Close your eyes. Let me walk you through this. You are reabsorbing quite a bit of iron from your intestines. Remember correctly, the hepcidin levels will be low. Therefore, there is nothing stopping you reabsorption of the iron from the intestine. There is increase activity on feraportin, which is then bringing all this iron from the intestine into circulation. Welcome to hereditary hemochromatosis. Now, give me the lab tests that you are going to find. Iron studies. What's the first thing that you are going...

    About the Lecture

    The lecture Hereditary Hemochromatosis by Carlo Raj, MD is from the course Cirrhosis – Liver Diseases.

    Included Quiz Questions

    1. Budd-Chiari syndrome
    2. Alpha antitrypsin deficiency
    3. Hemochromatosis
    4. Wilson disease
    5. Cystic fibrosis

    Author of lecture Hereditary Hemochromatosis

     Carlo Raj, MD

    Carlo Raj, MD

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