From the Guidelines
No specific management is required for patients with an MM genotype on alpha-1 antitrypsin (A1AT) testing, as this represents the normal wild-type genotype with adequate A1AT levels. These individuals produce normal amounts of functional A1AT protein and are not at increased risk for A1AT deficiency-related conditions such as early-onset emphysema or liver disease 1. Regular health maintenance and standard preventive care should be continued, with particular attention to avoiding risk factors for lung disease such as smoking cessation if applicable. If the patient was tested due to symptoms suggestive of lung or liver disease, alternative diagnoses should be pursued since A1AT deficiency is not the cause. The MM genotype indicates the presence of two normal M alleles of the SERPINA1 gene, resulting in normal serum A1AT levels typically between 20-53 μmol/L (or 150-350 mg/dL), which is sufficient to protect lung tissue from neutrophil elastase, which would otherwise cause progressive damage to alveoli leading to emphysema in deficient individuals.
Key points to consider in the management of these patients include:
- Avoiding risk factors for lung disease, such as smoking
- Continuing regular health maintenance and standard preventive care
- Pursuing alternative diagnoses if the patient was tested due to symptoms suggestive of lung or liver disease
- Not using alpha-1-antitrypsin augmentation therapy, as it is only recommended for patients with documented severe A1AT deficiency 1.
Overall, the management plan for a patient with an MM genotype on A1AT testing should focus on standard preventive care and addressing any underlying symptoms or conditions that may have prompted the testing, rather than specific management for A1AT deficiency.
From the Research
Management Plan for Alpha-1 Antitrypsin Deficiency
The management plan for a patient with an alpha-1 antitrypsin (A1AT) swab result showing an MM genotype involves several considerations:
- The MM genotype is associated with normal alpha-1 antitrypsin levels, and individuals with this genotype are generally not at increased risk for alpha-1 antitrypsin deficiency (AATD) 2.
- However, the presence of other genetic or environmental factors may still contribute to the development of chronic obstructive pulmonary disease (COPD) or other lung conditions 3, 4.
- Management of lung disease in patients with AATD, including those with the MM genotype, typically involves lifestyle changes, such as avoiding environmental pollutants and improving exercise and nutritional status 4.
- Non-pharmacological therapies, such as conventional treatment guidelines for COPD, may also be recommended 4.
- In some cases, augmentation therapy with intravenous alpha-1 antitrypsin may be considered, although the effectiveness of this treatment for individuals with the MM genotype is not well established 3, 4.
Diagnostic Considerations
- The diagnosis of AATD is typically based on a combination of clinical evaluation, laboratory testing, and genetic analysis 3, 5, 6.
- Serum alpha-1 antitrypsin levels and genotyping may be used to confirm the diagnosis and identify the specific genotype 2, 6.
- Other diagnostic tests, such as pulmonary function tests and imaging studies, may also be used to evaluate lung function and detect any underlying lung disease 4, 6.
Treatment Options
- Treatment options for AATD and related lung conditions may include:
- Lifestyle modifications, such as smoking cessation and avoidance of environmental pollutants 4.
- Pharmacological therapies, such as bronchodilators and corticosteroids, to manage symptoms and slow disease progression 4.
- Augmentation therapy with intravenous alpha-1 antitrypsin, which may be considered for individuals with severe AATD and lung disease 3, 4.
- The specific treatment plan will depend on the individual's genotype, clinical presentation, and underlying lung disease 3, 4, 6.