Decalogue of Best Practices in Alpha-1 Antitrypsin Deficiency.

Abstract

Alpha-1 antitrypsin (AAT) deficiency is an underdiagnosed genetic disorder that predisposes individuals to the development of pulmonary emphysema and liver disease. This document establishes ten priorities for the optimal management of AAT deficiency (AATD) in clinical practice, as identified by the Spanish AAT Deficiency Network (REDAAT). The need to establish an appropriate plasma AAT concentration cutoff to identify individuals who require phenotyping/genotyping studies is emphasized. Furthermore, in cases of reduced AAT values, it is recommended to implement automatic alerts suggesting SERPINA1 genotyping using reliable and accessible laboratory methods. Diagnostic and therapeutic protocols should be tailored to the patient's genotype and serum AAT concentration. In patients with levels ?57 mg/dL and severe deficiency genotypes, a multidisciplinary approach is required, including systematic respiratory and hepatic evaluation, specialized follow-up, consideration of augmentation therapy, and inclusion in prospective registries. Nursing plays a key role in conducting screening in pulmonary function laboratories, promoting accessibility and efficiency. The crucial role of primary care in ordering tests, early identification, and appropriate referral to hospital units for patients with chronic obstructive pulmonary disease (COPD) or unexplained liver disease is highlighted. The decalog also proposes quality-of-care indicators to monitor the implementation of screening across different levels of care. A comprehensive, personalized, and multidisciplinary approach to patients with AAT deficiency is recommended, promoting collaboration among pulmonology, hepatology, primary care, and pediatrics, and establishing reference centers to ensure equity and quality of care.