Decalogue of Best Practices in Alpha-1 Antitrypsin Deficiency

Area of Science:

• Genetics
• Pulmonology
• Hepatology

Background:

• Alpha-1 antitrypsin (AAT) deficiency is an underdiagnosed genetic disorder.
• It increases risk for pulmonary emphysema and liver disease.

Purpose of the Study:

• Establish ten priorities for optimal clinical management of AAT deficiency (AATD).
• Improve early identification, diagnosis, and patient care.

Main Methods:

• Expert consensus from the Spanish AAT Deficiency Network (REDAAT).
• Recommendations for diagnostic cutoffs, genotyping, and tailored treatment protocols.
• Emphasis on multidisciplinary care and quality indicators.

Main Results:

• Defines critical AAT plasma concentration cutoffs for testing.
• Recommends automatic alerts for SERPINA1 genotyping.
• Advocates for a multidisciplinary approach for severe deficiency cases (≤57 mg/dL).

Conclusions:

• A comprehensive, personalized, and multidisciplinary approach is essential for AATD management.
• Collaboration between pulmonology, hepatology, primary care, and pediatrics is crucial.
• Establishing reference centers ensures equitable and high-quality care.