Alpha-1 Antitrypsin Deficiency

Question 1

Alpha-1 Antitrypsin Deficiency

Answer 1

Alpha-1 anti-trypsin A1AT deficiency is a common inherited condition caused by a lack of protease inhibitor Pi, normally produced by the liver.
It causes emphysemia, COPD, in patients who are young and non-smokers.
It is located on chromosome 14, and autosomal recessive/co-dominant.

Question 2

Alpha-1 Antitrypsin Deficiency Key feature:

Answer 2

COPD symptoms in young patient.

Question 3

Alpha-1 Antitrypsin Deficiency Features:

Answer 3

patients who manifest disease have PiZZ geneotype
Lungs: panacinar emphysema, most marked in lower lobes
Liver: cirrhosis and hepatocellular carcinoma in adults, cholestasis in children.

Question 4

Alpha-1 Antitrypsin Deficiency Investigations:

Answer 4

A1AT concentrations

Spirometry: obstructive pattern

Question 5

Alpha-1 Antitrypsin Deficiency Management:

Answer 5

No smoking
Support: Bronchodilators, physiotherapy
Intravenous alpha1-antutrypsin protein concentrates
Surgery: lung volume reduction surgery, lung transplantation - if severe.