[Alpha 1-antitrypsin deficiency and emphysema. Replacement therapy?].

Area of Science:

• Pulmonology
• Genetics
• Biochemistry

Context:

• Presents three cases of homozygous alpha-1-antitrypsin deficiency (AATD).
• Highlights typical AATD manifestations: panlobular emphysema, early onset, low serum AAT levels (<35%), and PiZZ phenotype.
• Reviews epidemiology, pathogenesis, and clinical features of AATD.

Purpose:

• To describe three patients with AATD and pulmonary emphysema.
• To discuss the management of AATD, including replacement therapy.
• To emphasize the critical role of smoking cessation in AATD patients.

Summary:

• Three patients with homozygous alpha-1-antitrypsin deficiency (AATD) and pulmonary emphysema are presented.
• They exhibit characteristic features including panlobular emphysema, early onset, serum AAT levels below 35%, and the PiZZ phenotype.
• The discussion covers AATD epidemiology, pathogenesis, clinical aspects, and experiences with plasma-derived AAT replacement therapy.

Impact:

• Reinforces the genetic basis of early-onset emphysema in AATD.
• Underscores the importance of AAT replacement therapy for managing AATD.
• Provides a strong recommendation for smoking cessation in individuals with AATD to prevent disease progression.