Alpha 1 anti trypsin quiz!!

Question 1

What is actual alpha 1 anti trypsin?

Answer 1

It is a protease inhibitor- inhibits ELASTASE

Also trypsin, chymotrypsin, thrombin and bacterial proteases.

Question 2

Which organs are affected?

What time frame are we talking?

Answer 2

lungs
liver
skin

First two decades- lungs ok. Liver can be a problem.- neonatal hepatitis, cirrhosis, HCC

Early onset emphysema but often asymptomatic! Tend to have some other insult like smoking.

Autosomal co dominant inheritance- have to get a gene from each parent

Question 3

What causes the liver damage?

Answer 3

Not the proteases!

Pathologic polymerization of the variant AAT, causing intrahepatocyte accumulation of AAT molecules. Ie proteolysis is not part of the liver disease in A1AT.

Question 4

Treatment?

Answer 4

Weekly infusions of A1AT
Hep vaccinations
Treat as COPD
May need lung or liver transplant - once you get a liver transplant you can make the protein! Cured!