Question

Some have a congenital alpha-1 antitrypsin deficiency. If the job of alpha-1 antitrypsin is to inhibit trypsin and elastase, what condition are people with this genetic deficiency likely to develop?

a) Cystic fibrosis
b) Tuberculosis
c) Chronic obstructive pulmonary disease (COPD)
d) Emphysema

Answer 1

Individuals with alpha-1 antitrypsin deficiency are at risk of developing emphysema, a type of COPD, due to uncontrolled degradation of alveolar wall elastic fibers by elastase.

Step-by-step explanation:

People with a congenital alpha-1 antitrypsin deficiency are likely to develop emphysema. Alpha-1 antitrypsin (AAT) is the primary inhibitor of neutrophil elastase, an enzyme that can destroy the elastic fibers in the lungs. When AAT is deficient, elastase remains unchecked, leading to the breakdown of alveolar walls and resulting in emphysema, which is a form of Chronic Obstructive Pulmonary Disease (COPD). While cystic fibrosis (CF) also affects the lungs, it is caused by a mutation in the CFTR gene and is not related to alpha-1 antitrypsin deficiency.