AIAT deficiency

Question 1

what is AIAT deficiency?

Answer 1

deficiency of alpha 1 antitrypsin ( made by liver) enzyme

Question 2

what causes AIAT deficiency?

Answer 2

autosomal recessive mutation in SERPINA 1 gene on chromosome 14
- this gene provides instructions for AIA synthesis

Question 3

describe the pathology behind AIAT deficiency

Answer 3

1. AIAT normally inhibits NE ( that degrades elastic tissue)
2. deficient AIAT= High NE, this impacts lungs and liver
3. lungs- degrades elastic tissue causing alveolar duct collapse, air trapping and characteristic panacinar emphysema
4. liver - unprotected, soon becomes fibrotic- cirrhosis and HCC risk

NE is neutrophil elastase

Question 4

what are the symptoms for AIAT deficiency?

Answer 4

• COPD like symptoms:
  —- dysponea , chronić cough, sputum production
  -liver symptoms- jaundice

Question 5

how is AIAT deficiency diagnosed?

Answer 5

1. low serum AIAT
2. barrel chest on exam
3. chest x ray
4. CT
5. LFT
6. Genetic test
7. liver biopsy

Question 6

what is the treatment for AIAT deficiency?

Answer 6

there Is no treatment
but you can
- stop smoking
-manage emphysema ( e.g inhalers)
- If patient is hepatically decompensated then a liver transplant

Question 7

what would your genetic test show for AIAT dfficinecy?

Answer 7

+ve PI mutation

Question 8

what would your liver biopsy show for AIAT dfficinecy?

Answer 8

cirrhosis

Question 9

what would your LFTs show for AIAT dfficinecy?

Answer 9

spirometry shows obstruction ( FEV: FVC <0.7)

Question 10

what would your CTs show for AIAT dfficinecy?

Answer 10

panacinar emphysema

Question 11

what would your chest x ray show for AIAT dfficinecy?

Answer 11

hyperinflated lungs

Question 12

what value would your serum AIAT show for AIAT dfficinecy?

Answer 12

<20mmol/L

Question 13

what is the epidemiology for AIAT dfficinecy?

Answer 13

• young, middle aged male with little- no smoking history history