Alpha-1 Antitrypsin Deficiency

by Brian Alverson, MD

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    00:01 and then this flows to the lungs and protects our lungs from what would be damage from this neutrophil elastase.

    00:05 presentation of respiratory disease that happens a little bit later in childhood and let’s focus now on alpha-1-antitrypsin deficiency.

    00:16 So, in a normal person, we make neutrophil elastase.

    00:22 This is a substrate that is secreted by neutrophils to fight infections.

    00:28 We protect our own bodies from these elastase with alpha-1-antitrypsin.

    00:35 In patients who are normal, they are making alpha-1-antitrypsin in the liver as you can see here, and then this flows to the lungs and protects our lungs from what would be damage from this neutrophil elastase.

    00:53 So the alpha-1-antitrypsin is protecting our lungs against the neutrophil elastase, which we’re using to fight off infections.

    01:00 In a patient with alpha-1-antitrypsin deficiency, the problem is they can’t get the alpha-1-antitrypsin out of the liver, it’s trapped in there, and that accrual is actually causing liver damage.

    01:14 Furthermore, because that can’t get out of the liver, the lungs now lack the protection and the neutrophil elastase is causing lung damage.

    01:28 This disease affects about one in 5,000 people.

    01:32 It’s more common in Caucasians, and the liver disease often starts in childhood with prolonged jaundice and no clear cause.

    01:42 Lung disease typically starts in adolescence or young adulthood.

    01:47 If an adolescent is a smoker, they will dramatically worsen their lung outcomes and the risk of hepatocellular cancer later in life is very real.

    01:59 So how do we manage these children? We worry about their lungs and their livers.

    02:03 We provide supportive care for their absorption of bile salts through liver dysfunction, they might have a problem and we take care of that.

    02:15 In addition, we manage their lung disease accordingly.

    02:20 In patients with AAT deficiency, a serum level is obtained, and if it is below the effective "protective threshold" for the protein to work in the body, and if the patient has severe pulmonary dysfunction, we will administer weekly infusions of AAT.

    02:37 While modestly effective at improving pulmonary outcomes, this is extremely expensive therapy, and use is unfortunately limited in the US because of cost and difficulty with the therapy.

    About the Lecture

    The lecture Alpha-1 Antitrypsin Deficiency by Brian Alverson, MD is from the course Pediatric Pulmonology.

    Included Quiz Questions

    1. Alpha-1-antitrypsin is trapped in the liver.
    2. Alpha-1-antitrypsin is not produced in the liver.
    3. Alpha-1-antitrypsin is not produced by type 2 pneumocytes in the lung.
    4. Alpha-1-antitrypsin is lost in the stool.
    5. Alpha-1-antitrypsin is lost in the urine.

    Author of lecture Alpha-1 Antitrypsin Deficiency

     Brian Alverson, MD

    Brian Alverson, MD

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    Good lecture
    By Jalil Z. on 05. January 2021 for Alpha-1 Antitrypsin Deficiency

    Short but to the point. Good summary, easy to remember. Thanks!