Hereditary Liver Diseases

by Carlo Raj, MD

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    00:01 Autosomal recessive; increased intestinal iron absorption is the pathogenesis for hereditary hemochromatosis affects middle aged men with the bronzing.

    00:14 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.

    00:27 I actually never come out of my room because I had this amazing Playstation.

    00:32 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.

    00:42 Oh, boy! You see hyperglycemia.

    00:46 There is no history of transfusion ever in this patient.

    00:52 You're thinking about a Hereditary Hemochromatosis.

    00:55 You talked about this on hematology as well.

    00:58 Where our topics there included HFE hereditary FE (iron) and then also our topic would hepcidine and feraportin.

    01:08 Big time for your boards, the understanding of this disease is showing up on your boards.

    01:15 We'll talk further about hemacromatosis And I'll walk you through real quick once again, hereditary and primary.

    01:23 Let's continue.

    01:25 Under hereditary liver disease, let's say that it is being caused by hemochromatosis.

    01:31 Here, you expect to find High ferritin.

    01:34 iron saturation with iron overload, we've talked about this in hematology, hence I'm not going to great detail.

    01:40 Close your eyes.

    01:40 Let me walk you through this.

    01:42 You are reabsorbing quite a bit of iron from your intestines.

    01:46 Remember correctly, the hepcidin levels will be low.

    01:49 Therefore, there is nothing stopping you reabsorption of the iron from the intestine.

    01:55 There is increase activity on feraportin, which is then bringing all this iron from the intestine into circulation.

    02:02 Welcome to hereditary hemochromatosis.

    02:04 Now, give me the lab tests that you are going to find.

    02:08 Iron studies.

    02:10 What's the first thing that you are going to do? Remember, Sillymarin.

    02:15 obviously, elevated.

    02:17 Once iron comes out in the serum, where is it going to be stored? Ferritin ought to be high.

    02:24 But the third thing that you are going to look for.

    02:26 TIBC If your Ferritin levels are high, your TIBC will be low.

    02:32 And tell me about saturation.

    02:36 Increased iron saturation.

    02:38 If you aren't clear about what you did with iron studies, I highly recommend that you go back to hematology obviously, pathology, and take a look at our iron studies in great detail.

    02:50 Now, you need to start putting things together.

    02:53 This is the example of that.

    02:57 Genetic testing.

    02:58 You do want to know about C282Y. Memorize that.

    03:03 And something that we talked about earlier with HFE.

    03:07 If there's anything you would want to take out of this at this point, that is tested is the C282Y.

    03:12 If you remember H63D, that is on your own.

    03:15 that when C282Y becomes important.

    03:19 Hereditary Hemochormatosis So, what and how do you manage this patient? Every week, because of all that iron, that is hereditary, inherited.

    03:30 This is not due to transfusion, right? You need to do a phlebotomy. You have to.

    03:36 Otherwise, well, think about all the different organs that are damaged in hemochromatosis.

    03:42 Remember in cardiology? we talked about hemachromatosis? Why? If the iron accumulates on your heart, it may result in two cardiomyopathies.

    03:54 It will either be restricted cardiomyopathy or dilated cardiomyopathy and most likely, That is what your patient is going to die of right? Heart failure.

    04:04 If these iron accumulates on the pancreas.

    04:07 Dead is the pancreas, Dead is insulin, thus you'll have hypoglycemia.

    04:15 And the iron accumulates on the skin.

    04:17 What color is this going to give your patient? Good. Bronzing.

    04:21 Hence, we call this bronze diabetes.

    04:25 Phlebotomy obviously is imperative.

    04:27 And, why are we discussing it here? What if the iron accumulates on your liver? Dead is the liver.

    04:35 Welcome to hereditary issues of liver disease, right? Quickly, may I ask you.

    04:40 You are doing H&E stain for iron. What color is that? Don't just jump to blue and I talked to you about this please.

    04:48 Because on your boards they might give you a picture of iron, and I've showed you one.

    04:51 In hematology, that iron in hematology appears brown.

    04:56 Once you suspect hemachromatosis what is the stain you are going to use? prussian blue.

    05:02 And then the iron appears in what color? Good, blue.

    05:06 Phlebotomy does not reverse cirrhosis or hypogonadism or arthropathy, it does not.

    05:10 So, if the disease has kicked in and iron accumulates on the liver, Bam! Dead! Cirrhosis. If the iron accumulates on the gonads, let's say it's a male, the testes are gone.

    05:21 That is hypogonadism. It won't reverse that.

    05:25 But hopefully you'd able to then, prevent further damage taking place up and down the body.

    05:31 Liver transplantation for advanced disease.

    05:33 Nothing that you can do about that once your liver is dead.

    05:36 There is an increased risk for hepato cellular carcinoma (HCC) Thus, screening for it with alpha fetoprotein being elevated is important.

    05:45 And always check for...remember, this is hereditary.

    05:49 Your next step of management, you've ruled out transfusion.

    05:53 Who is your patient that suffers from secondary hema chromatosis most likely? Secondary.

    05:58 Good.

    05:59 Sever anemia such as, Beta Thalassemia major.

    06:05 And with all that transfusion that is taking place from day one, that is secondary hematochromatosis so that is ruled out.

    06:13 Now, it is hereditary.

    06:14 What is your next step? Oh! Is there family history of such things taking place? Did your mother perhaps die of heart disease or having hyperglycemia.

    06:25 and so and so forth.

    06:27 Management is important.

    About the Lecture

    The lecture Hereditary Liver Diseases 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 Liver Diseases

     Carlo Raj, MD

    Carlo Raj, MD

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