Alpha 1 ATT Deficiency

Question 1

What is the purpose of alpha 1 antitryspin

Answer 1

Inhibits Neutrophil elastase which degrades elastic tissue

Question 2

What is neutrophil elastase

Answer 2

Chemical which degrades elastic tissue

Question 3

What is A1ATD

Answer 3

Auto recsessive mutation of SERPINA1 gene (Ch14) causing deficinecy of A1AT

Question 4

What is the pathology of A1ATD @ lungs

Answer 4

Degrades lung tissue = alveolar duct collapse, air trapping w/ Emphysema charecter

Question 5

What is the pathology of A1AT at the liver

Answer 5

Liver becomes exposed = fibrosis= cirrhosis w/HCC risk

Question 6

Where is A1AT produced

Answer 6

Liver

Question 7

What is the typical presentation of a patient with A1ATD

Answer 7

Young male

• Non heavy smoker
• COPD like symptoms

Question 8

What are the presentations found with A1ATD

Answer 8

dyspnoea
chronic cough w/ sputum
Barrel chest (Pink Puffer Px)
Jaundice?

Question 9

How is A1ATD investigated

Answer 9

Low serum A1ATD
Barrel chest exam (CXR = Hyperinflated lungs)
CT = Emphysema
Spirometry = Obstruction
Genetic test = SERPINA1 mutation

Question 10

How is A1ATD treated

Answer 10

Stop smoking
Inhaler for emphysema
Liver transplant if decompensated liver