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 anti-tripsin

deficiency.

And you can find written notes on this topic at zero-to-finals.com slash aAT deficiency

or in the gastroenterology section of the zero to finals medicine book.

So let's get straight into it.

Alpha 1 antitripsin deficiency is a genetic condition caused by low levels of alpha 1 antitripsin.

Two main organs are affected in patients with alpha-1 antitripsin deficiency. They develop chronic obstructive pulmonary disease and bronchiakysis in the lungs, typically after age 30,

and dysfunction, fibrosis and cirrhosis of the liver.

And the presence of liver disease depends on the specific genotype, which we'll talk about

in more detail shortly.

So let's go through the pathophysiology.

The Serpin A1 gene, coding for alpha-1 antitripsin, is found on chromosome 14.

The gene has many potential variations, each with different effects on the quantity and

functionality of alpha-1 antitripsin.

Alpha-1 antitripsin deficiency is inherited in an autosomal, co-domin pattern.

Co-domin refers to when both gene copies are expressed and contribute to the outcome.

Neither copy is dominant or recessive over the other.

The disease severity results from the combination of both copies of the gene.

Alpha-1 antitripsin is a protease inhibitor.

One critical protease enzyme is neutrophil elastase.

This enzyme which is secreted by neutrophils digests elastin,

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