Improving Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in Primary Care: Translating Knowledge into Action

Abstract

ABSTRACTAlpha-1 antitrypsin (AAT) deficiency is an established genetic risk factor for pulmonary disease and may lead to severe emphysema. Despite accessible, inexpensive, and straightforward testing procedures, the disorder is still widely undiagnosed due mainly to a lack of awareness among the medical community. AAT deficiency often results in the development of non-specific respiratory symptoms that can be confused with those of other non-hereditary chronic obstructive pulmonary disease or asthma. However, there are published guidelines that provide detailed recommendations on patient testing. Early diagnosis of AAT deficiency is fundamental to improve patient outcomes; it allows preventive measures to be taken, such as smoking cessation, and allows monitoring and initiation of appropriate therapy while lung function is still relatively preserved. Diagnosis should not solely be the domain of the specialist pulmonologist; testing can be easily initiated in the primary care setting. The establishment of process maps and diagnosis algorithms, as suggested in this review, should encourage appropriate suspicion, testing, and follow-up of AAT deficiency in the patient's primary care medical home setting. Primary care physicians have a key role in increasing the awareness, diagnosis, and effective management of this disorder.