Case: A nonsmoking patient of yours comes in and has panacinar emphysema. She also had chronic bronchitis. What protease is malfunctioning? What is the disease and Rx? What is the pathophysiology?
A) This is ALPHA 1 ANTITRYPSIN DEFICIENCY. The genetic defect of alpha 1 antitrypsin deficiency results in a molecule that cannot be released from its production site in hepatocytes. Low serum levels of the protein result in low alveolar concentrations, where the molecule normally would serve as protection against antiproteases. The resulting protease excess destroys alveolar walls and causes emphysema. Give a drug branded called Prolastin to replace the deficiency.