ALPHA 1 ANTITRYPSIN MUTATION

Course overview

ALPHA-1 ANTITRYPSIN IS A PROTEASE INHIBITOR PRODUCED PRIMARILY IN THE LIVER. IT INHIBITS THE NEUTROPHIL ELASTASE ACTIVITY IN THE LUNG AND HENCE CAN PROTECT IT FROM PROTEOLYTIC DAMAGE. IT IS RESPONSIBLE FOR APPROXIMATELY 90% OF THE PROTECTION AGAINST ELASTOLYTIC ACTIVITY IN THE LOWER AIRWAYS CAUSED BY ELASTASE RELEASED FROM NEUTROPHILS. IF THE NEUTROPHILS' ELASTASES ARE NOT OPPOSED, PANACINAR LUNG TISSUE IS DAMAGED AND INCREASES THE RISK OF DEVELOPING CHRONIC OBSTRUCTIVE PULMONARY DISEASE (COPD). ON THE OTHER HAND, THE RETENTION AND ACCUMULATION OF MUTATED POLYMERS IN THE ENDOPLASMIC RETICULUM OF HEPATOCYTES RENDERS THE INDIVIDUALS WITH THIS DISEASE AT RISK OF "A GAIN OF TOXIC FUNCTION" LEADING TO LIVER DISEASE. THIS ACTIVITY REVIEWS THE EVALUATION AND MANAGEMENT OF ALPHA-1 ANTITRYPSIN MUTATION AND HIGHLIGHTS THE ROLE OF INTERPROFESSIONAL TEAM MEMBERS IN COLLABORATING TO PROVIDE WELL-COORDINATED CARE AND ENHANCE PATIENT OUTCOMES IN THE CARE OF PATIENTS WITH THIS RARE CONDITION.