Question

A 34-year-old male presents with emphysema. He has never smoked and does not get much exposure to secondhand smoke. What is the name of the hereditary disease that may be responsible for his emphysema? *

2 points

Intrinsic asthma

1-Antitrypsin deficiency

Duchenne muscular dystrophy

Pulmonary fibrosis

Other:

Answer 1

Emphysema can occur due to smoking as well due to hereditary causes. The predominant hereditary cause is deficiency of the enzyme alpha 1 antitrypsin. This enzyme is produced in the liver. In the lungs, this enzyme serves a protective function against the neutrophil elastase enzyme, which can cause disruptions in connective tissue.

Intrinsic asthma causes asthma which causes bronchoconstriction and is a separate entity from COPD

Duchenne muscular dystrophy and pulmonary fibrosis causes restrictive lung disease.

Emphysema is an obstructive pulmonary disease.

Hence the answer is 1-antitrypsin deficiency