alpha-1 antitrypsin deficiency

Question 1

what is alpha-1 antitrypsin deficiency

Answer 1

inherited condition caused by lack of protease inhibitor normally produced by the liver
classically causes emphysema (COPD) in patients who are young and non-smokers

Question 2

where is the coding for alpha-1 antitrypsin found

Answer 2

chromosome 14

Question 3

presentation of alpha-1 antitrypsin deficiency

Answer 3

most likely to have PiZZ genotype
lungs: panacinar emphysema, mostly in lower lobes
liver: cirrhosis and hepatocellular carcinoma, cholestasis in children

Question 4

diagnosis of alpha-1 antitrypsin deficiency

Answer 4

low serum alpha-1 antitrypsin
genetic testing
lung damage: CXR, high resolution CT thorax, pulmonary function tests
liver biopsy shows: periodic acid-schiff positive staining globules

Question 5

management of alpha-1 antitrypsin deficiency

Answer 5

no smoking
supportive: bronchodilators, physiotherapy
intravenous alpha-1 antitrypsin protein concentrates
surgery: lung volume reduction surgery