Alpha-1 antitrypsin deficiency

Question 1

What is the inheritance pattern?

Answer 1

recessive/co-dominant

Question 2

What is it?

Answer 2

Mutations in the alpha-1 antitrypsin gene on chromosome 14 lead to
reduced hepatic production of alpha-1 antitrypsin which normally
inhibits the proteolytic enzyme - neutrophil elastase
this leads to emphysematous changes

Question 3

How does it present ?

Answer 3

1. Lungs - emphysema - productive cough, SOB,

2. Liver - cirrhoses + hepatocellular ca in adults, cholestasis in children

Question 4

What investigations can u do?

Answer 4

1. Plasma A1AT level (<20micromol/L)

2. PFT

Question 5

What is the greatest RF?

Answer 5

smoking

Question 6

What is the treatment?

Answer 6

1. NO SMOKING
2. Supportive - bronchodilators, physio
3. IV A1AT concentreates
4. Surgery