Alpha-1 Antitrypsin Deficiency

Question 1

What is Alpha-1 Antitrypsin deficiency?

Answer 1

lack of a protease inhibitor (Pi) normally produced by the liver
Results in COPD in young non-smokers

Question 2

Describe inheritance of A1AT deficiency

Answer 2

Autosomal recessive / co-dominant fashion
Allele on Chr 14

Question 3

Describe the classification of alleles in A1AT deficiency

Answer 3

M = normal
S = slow
Z = very slow

Question 4

Describe the possible genotypes and phenotypes of A1AT deficiency

Answer 4

PiMM: Normal
PiMZ: Risk emphysema
PiSS: 50% normal A1AT levels
PiZZ: 10% normal A1AT levels

Question 5

Give 2 manifestations of A1AT deficiency

Answer 5

Lungs: panacinar emphysema, most marked in lower lobes
Liver: cirrhosis + hepatocellular carcinoma in adults, cholestasis in children

Question 6

Describe investigations for A1AT deficiency

Answer 6

A1AT concentrations
Spirometry: obstructive picture

Question 7

What should patients with A1AT deficiency be informed of?

Answer 7

AVOID SMOKING
A1AT deficiency can be diagnosed pre-fatally

Question 8

Describe medical management of A1AT deficiency

Answer 8

Bronchodilators
Physiotherapy
IV alpha1-antitrypsin protein concentrates

Question 9

What surgical management may be offered in A1AT deficiency?

Answer 9

Lung volume reduction surgery
Lung transplantation