From the Guidelines
The treatment for alpha 1 antitrypsin (A1AT) deficiency focuses on preventing lung damage and managing symptoms, with augmentation therapy with intravenous alpha-1 proteinase inhibitor being the primary specific treatment, as recommended by the most recent guidelines 1.
Key Components of Treatment
- Augmentation therapy with intravenous alpha-1 proteinase inhibitor (such as Prolastin, Aralast, Zemaira, or Glassia) is typically administered at 60 mg/kg body weight weekly for patients with emphysema and serum levels below 11 μmol/L (57 mg/dL) 1.
- Lifestyle modifications are crucial, with smoking cessation being absolutely essential as smoking accelerates lung destruction.
- Patients should avoid secondhand smoke and other respiratory irritants.
- Standard treatments for COPD are also important, including:
- Bronchodilators
- Inhaled corticosteroids
- Pulmonary rehabilitation
- Supplemental oxygen if needed
- Prompt treatment of respiratory infections
- Vaccinations against influenza, pneumococcal pneumonia, and COVID-19 are recommended.
Liver Disease Management
- For liver disease related to A1AT deficiency, management focuses on monitoring liver function and treating complications.
- Liver transplantation is considered for end-stage liver disease.
Genetic Counseling
- Genetic counseling is advisable for family planning, as A1AT deficiency is inherited in an autosomal codominant pattern.
Recent Guidelines
- The Canadian Thoracic Society meta-analysis and clinical practice guideline 1 provides an evidence-based update on the diagnosis and treatment of respiratory disease associated with A1AT deficiency, emphasizing the importance of targeted testing and augmentation therapy.
- The guideline recommends a two-step approach for testing, starting with measuring A1AT serum levels, and then DNA sequencing for high-risk patients or those with moderate clinical suspicion.
- The use of DNA sequencing is proposed as the gold standard for A1AT deficiency testing, allowing for accurate identification of genetic variants and functional deficiency.
From the Research
Treatment Options for Alpha 1 Antitrypsin Deficiency
- Augmentation therapy with purified AAT is effective in slowing the progression of emphysema due to AAT deficiency (AATD) 2, 3, 4, 5
- Lung transplantation is the only treatment option available for patients with end-stage lung disease, and it can improve lung physiology and patient health status 2
- Liver transplantation is the only treatment option for end-stage liver disease, and it can normalize AAT serum levels and halt further lung and liver disease progression 2, 5, 6
- Combined lung and liver transplantation is a treatment option for patients with simultaneous end-stage lung and liver disease, with favorable outcomes 2
Management of AATD
- Aggressive avoidance of smoking and biomass burning is recommended 3
- Vaccinations, antibiotics, exercise, and a good diet are also important for effective management of AATD 3
- Serial assessment and monitoring of lung function are necessary to track the progression of the disease 3
- COPD medications may be used to manage symptoms and slow disease progression 3
Outcomes of Treatment
- Survival rates for lung transplantation are significantly higher for patients with AATD-related COPD compared to non-AATD-related COPD 2
- Survival rates for patients with AATD undergoing liver transplantation are also favorable 2
- Liver transplant may prevent the progression of pulmonary disease in A1A-deficient patients 6