Alpha-1 Anti-Trypsin Deficiency

by Carlo Raj, MD

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    Alpha-1 Anti-Trypsin Deficiency Really important for you to know. Third most common or really not even third but it is A third important genetic disease in the Caucasian population. Quickly walk me through alpha-1 anti-trypsin we did this in pulmonology, when we did our Panacinar Emphysema. Remember that Alpha-1 Anti-Trypsin is a protease inhibitor. What protease am I referring to? Elastase. So, as long as the proper amount of Alpha-1 Anti-Trypsin is being synthesize where? Liver. Then, to be able to properly combat and control the amount of Elastase activity Two major organs, where it becomes crucial, For proper amount of Alpha-1 Anti-Trypsin include the lungs and the liver. Of the two organs, which pair of symptoms or which set of symptoms Is the patient going to first come in with? Is the patient truly going to come in with jaundice? As being the prevalent symptom? Our is it going to be more of an obstructive type emphysema? Obstructive. First and foremost, you're going to look for a decrease FEV1/FVC ratio. Severely decreased less than 80% and maybe down to 25% Or 30%, Panecinar. How old is your patient most likely with Alpha-1 Anti-Trypsin that presents with such emphysema? Well, if they weren't smokers, still young, maybe about 40 to 45, hmm... What if they are smoking and have Alpha-1 Anti-Trypsin deficiency? How old is that patient? A good decade younger. Wow! At 30-35, really dangerous! Let's continue. The deficiency of Alpha-1 Anti-Trypsin enzyme with the accumulation of proteases in the liver causing damage to it. What is a gene for Alpha-1 Anti-Trypsin? PI. Remember? PI Stands for protease inhibitor What a beautiful name for an enzyme that does exactly what you expected it to do. To hold back your protease. That's your PI. For every Z that you pick...

    About the Lecture

    The lecture Alpha-1 Anti-Trypsin Deficiency by Carlo Raj, MD is from the course Cirrhosis – Liver Diseases.

    Included Quiz Questions

    1. Smoking
    2. Alcohol
    3. Exposure to asbestos
    4. Asthma
    5. Pulmonary hypertension
    1. Proteases
    2. Glycogen
    3. Lipid
    4. Nucleic acids
    5. Uric acid
    1. PAS-positive globules
    2. Intracellular blue deposits on prussian blue stain
    3. Black deposits on Masson Fontana stain
    4. Greenish brown deposits in Hematoxylin and eosin stain
    5. Red deposits on oil red O stain
    1. Pi gene
    2. HFE gene
    3. C282Y gene
    4. BRCA gene
    5. HEJV gene

    Author of lecture Alpha-1 Anti-Trypsin Deficiency

     Carlo Raj, MD

    Carlo Raj, MD

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    IV alpha1-antiprotease
    By Hamed S. on 15. March 2017 for Alpha-1 Anti-Trypsin Deficiency

    It would have been good to discuss the use IV arantiprotease for the management of this condition. Moreover a little bit of discussion about the genetics of this conditions how it influences the disease presentation and natural history.