Alpha-1 Antitrypsin Deficiency (AATD) Case Studies and Expert Perspectives: Screening, Diagnosis, and Augmentation Therapy

Target Audience
The intended audience for this activity is pulmonologists, allergists, hepatologists, gastroenterologists, respiratory therapists, and other health care providers who screen and manage patients with alpha-1 antitrypsin deficiency (AATD).

Program Overview
Alpha-1 antitrypsin deficiency (AATD) is one of the most prevalent genetic diseases. It is an uncommonly diagnosed, potentially life-threatening genetic disorder that predisposes individuals to lung and/or liver disease. In this case-based activity, Dr. Charlie Strange, Professor of Pulmonary, Critical Care, Allergy, and Sleep Medicine from the Medical University of South Carolina and Dr. Virginia Clark, Clinical Professor of Medicine from the University of Florida discuss what every clinician needs to know about this often overlooked condition.

AATD is characterized by markedly decreased plasma levels of alpha-1 antitrypsin (AAT), a circulating serine protease inhibitor produced primarily in the liver and secreted into circulation to protect tissues from proteolytic damage. AATD is a widely underdiagnosed condition, with many individuals experiencing delays of 5 to 8 years between first symptoms and AATD diagnosis. Delayed diagnosis of AATD is associated with worse clinical and functional status and negative psychosocial consequences. Testing is the only way to determine who has AATD. Initial testing of AAT levels can be accomplished with an inexpensive blood test, followed by genotype testing. All individuals with chronic obstructive pulmonary disease (COPD), early-onset pulmonary emphysema, or unexplained liver disease should be tested for AATD. Intravenous augmentation therapy, indicated in adults with clinically evident emphysema due to AATD, is effective at all levels of forced expiratory volume in 1 second (FEV1) impairment and beneficial for early- and late-stage disease. Although augmentation therapy is not indicated for AATD liver disease, a number of promising new therapies are on the horizon.

Learning Objectives
Upon completion of this activity, participants should be better able to:

Describe the impact of delayed diagnosis on patient quality of life and the disease course
Recognize patients who should be screened for AATD and perform appropriate screening procedures
Assess the value of augmentation therapy for managing AATD