Primary care diagnosis of alpha-1 antitrypsin deficiency: Issues and opportunities
James K. Stoller, MD, MS
Professor of Medicine, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University; Vice Chairman, Division of Medicine, Cleveland Clinic; Head, Section of Respiratory Therapy, Department of Pulmonary, Allergy, and Critical Care Medicine, Cleveland Clinic
Leonard Fromer, MD
Assistant Clinical Professor, Family Medicine, David Geffen School of Medicine, The University of California at Los Angeles
Mark Brantly, MD
Professor of Medicine, Molecular Genetics and Microbiology, Division of Pulmonary and Critical Care Medicine and Department of Biometry, University of Florida College of Medicine; Director, University of Florida Alpha-1 Antitrypsin Genetics Laboratory, University of Florida College of Medicine, Gainesville
James Stocks, MD
Professor of Medicine, Director of the Pulmonary Function and Sleep Laboratories, University of Texas at Tyler
Charlie Strange, MD
Professor, Pulmonary and Critical Care Medicine, Medical University of South Carolina, Charleston
Address: James K. Stoller, MD, MS, Department of Pulmonary, Allergy, and Critical Care Medicine, A90, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195; e-mail email@example.com
Dr. Stoller has indicated that he has been a consultant for Talecris and Baxter corporations.
Dr. Brantly has indicated that he has received honoraria from Talecris. Dr. Strange has indicated
that he has been a consultant for Talecris, GTC Biotherapeutics, and Arriva.
ABSTRACTAlpha-1 antitrypsin deficiency—an autosomal codominant condition that predisposes to emphysema and also to liver disease—affects 100,000 Americans, yet in many cases the condition is either not diagnosed or the time between first symptoms and diagnosis is long. Because primary care physicians care for large numbers of patients with chronic obstructive pulmonary disease, enhanced suspicion of and testing for alpha-1 antitrypsin deficiency in the primary care setting would help identify people affected with this condition. The authors discuss impediments to diagnosis and drivers to making the diagnosis of alpha-1 antitrypsin deficiency, and they suggest several measures to enhance clinicians' recognition of the condition.