Alpha-1 antitrypsin deficiency (AATD): Optimizing pharmacotherapeutic management strategies

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Alpha 1-antitrypsin deficiency (AATD), characterized by low serum levels of the serine protease inhibitor alpha-1 antitrypsin (AAT), is a genetic disorder resulting in destruction of lung structures. Reduced levels of AAT result in overactivity of neutrophil elastase, which destroys connective tissue within the lung and causes degradation of alveoli, reduced pulmonary elastic recoil, and airflow. Breakdown of the alveoli eventually manifest as emphysema or other forms of chronic lung disease, including chronic obstructive lung disease (COPD). Other complications associated with AATD include liver disease, panniculitis, and vasculitis. The most common cause of death in patients with severe AATD is respiratory failure, which accounts for 45 to 72% of deaths. Smoking, occupational hazards such as firefighting, and high levels of cumulative exposure to pollution accelerate the rate of lung function decline in people with AATD. AATD is estimated to affect one out of every 2,000 to 5,000 individuals, mainly of North European or Iberian ancestry, with a global prevalence of over 3.4 million affected individuals.

Target Audience:

The following healthcare professionals: pulmonologists and primary care physicians; physician assistants, nurse practitioners, nurses, and pharmacists who practice in pulmonology and internal medicine; and any other healthcare professionals with an interest in or who clinically encounter patients with AATD.

By the end of the session the participant will be able to:

  • Summarize the present state of awareness of AATD among healthcare professionals and its attendant impact on patient care.
  • Describe the best time to test a patient for AATD and whether to conduct a family screening.
  • Apply best treatment practices to patients with AATD in various clinical scenarios.
  • Describe the challenges associated with the optimal diagnosis and treatment of AATD.

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