Alpha-1 Antitrypsin Flashcards
What is A1AT
An inhibitor for trypsin and neutrophil elastase, both of which are proteases
What is a protease
A protein that breaks down other proteins
What is A1ATs function in the lungs
Block neutrophil elastase
What does neutrophil elastase do
Breaks down elastin
What does elastin do
Gives elasticity and strength
What is the overall cause of A1AT deficiency in the lungs
COPD (emphysema and chronic bronchitis)
Where in the lungs does A1ATD affect
Lower lobes
What is the gene that has the code for A1AT
Serpine 1 gene
How does A1ATD affect the liver
Misfolded A1AT trapped in endoplasmic reticulum and cause cell death
Is it a recessive or dominant disease
Recessive
What are symptoms of A1AT in the lungs
SOB, wheeze, mucus and chronic cough
What are the liver problems caused
Cirrhosis, build up of toxins, cannot make some coagulation factors, hepatocellular carcinomas and jaundice.
Diagnosis
CXR (hyperinflation and damaged tissue), CT, pulmonary function, blood test A1AT deficiency, liver biopsy
Treatment
Augmentation therapy (replace A1AT), COPD treatment and standard cirrhosis treatment
