Lectures

Hereditary Liver Diseases

by Carlo Raj, MD
(1)

Questions about the lecture
My Notes
  • Required.
Save Cancel
    Learning Material 2
    • PDF
      Slides LiverDisease GastrointestinalPathology.pdf
    • PDF
      Download Lecture Overview
    Report mistake
    Transcript

    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


    Customer reviews

    (1)
    5,0 of 5 stars
    5 Stars
    5
    4 Stars
    0
    3 Stars
    0
    2 Stars
    0
    1  Star
    0