Hello and welcome to the Zero to Finals podcast.

My name is Tom and in this episode I'm going to be talking to you about Alpha 1 antitripsin deficiency.

If you want to follow along with written notes on this topic, you can follow along at 0.0.5.com

or in the gastroenterology section of the zero definals medicine book.

So let's get straight into it.

Alpha 1 antitripsin deficiency is an inherited deficiency of alpha 1 antitripsin.

And alpha 1 antitripsin is a protease inhibitor. And a deficiency in the alpha 1 antitripsin. An alpha-1 antitripsin is a protease inhibitor. And a deficiency in the alpha-1 antitripsin

protease inhibitor leads to an excess of protease enzymes. And these enzymes attack the liver and the lung

tissue and ultimately lead to liver cirrhosis and lung damage. So let's look in more detail at the pathophysiology.

Elastase is an enzyme that's produced by neutrophils, and neutrophils are cells in the immune

system.

And this enzyme digests connective tissue.

Alpha 1 antitripsin is present in tissues and it helps to inhibit this

neutrophil elastase enzyme and protect the tissues from the damaging effect of that elastase enzyme.

Alpha-1 antitripsin is coded for on chromosome 14 and in alpha-1 antitripsin deficiency, there's an autosomal

recessive defect in the gene for alpha-1 antitripsin.

And what happens is this results in a deficiency in alpha-1 antitripsin, and it results in an

increased level of neutrophil elastase in the tissues, causing damage to those

connective tissues. There's two main organs that are affected, the liver and the lungs, and it leads

to liver cirrhosis after about 50 years of age, and it targets the lungs and causes pulmonary basal

emphysema after about 30 years of age.

And emphysema is the breakdown of that nice alveola lung tissue

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