Primary care diagnosis of alpha-1 antitrypsin deficiency: issues and opportunities

Abstract

Alpha-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.