Improving Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in Primary Care: Translating Knowledge into Action

Figures & data

Figure 1a.  AAT deficiency screening, diagnosis, and planned-care follow-up for primary care physicians: Process map. AAT = Alpha-1 antitrypsin; PCP = primary care physician.

Figure 1b.  AAT deficiency screening, diagnosis, and planning-case follow-up for primary care physicians: Diagnosis algorithm. AAT = Alpha-1 antitrypsin.

Table 1.  Recognition of AAT deficiency and recommendations for testing

Clinical recognition of AAT deficiency

Features that should prompt the physician to suspect AAT deficiency

1. Early-onset emphysema or emphysema in the absence of a recognised risk factor

2. Emphysema with a prominent basal distribution

3. Otherwise unexplained liver disease

4. Necrotising panniculitis

5. Anti-proteinase 3-positive vasculitis

6. Family history of emphysema, bronchiectasis, liver disease, or panniculitis

7. Bronchiectasis without evident cause

ATS/ERS recommendations for diagnostic testing (2)

Genetic testing is recommended in the following settings (Type A recommendation)^a

1. Adults with symptomatic emphysema or COPD

2. Symptomatic adults with asthma that is incompletely reversible, despite aggressive treatment with bronchodilators

3. Asymptomatic adults with persistent airflow obstruction on pulmonary function tests with smoking or occupational exposure

4. Adults with necrotising panniculitis

5. Siblings of affected individuals

6. Individuals (including neonates, children, and adults) with liver disease of unknown etiology

AAT = Alpha-1 antitrypsin; ATS = American Thoracic Society; COPD = chronic obstructive pulmonary disease; ERS = European Respiratory Society.

^aRecommendations for testing were given a classification (Type A–D). Type A denotes that genetic testing is recommended. Recommendations are informed by both the evidence of each issue that either supports or opposes genetic testing, and the consensus of experts on how strongly each issue supports or opposes genetic testing. For other recommendations, see the online guidance at http://www.alphaone.org/healthcare.

Table 2.  Medical treatments for AAT deficiency (2)

General treatments

Optimal management of stable individuals with AAT deficiency should include interventions recommended for those with normal AAT levels and emphysema

1. Inhaled bronchodilators

2. Antibiotics for patients with evidence of bronchitis or respiratory tract infection

3. Preventive vaccinations for influenza and pneumococcus

4. Supplemental oxygen

5. Pulmonary rehabilitation for those with functional impairment

6. Brief courses of systemic corticosteroids and ventilatory support during exacerbations

7. Nutritional support

8. Consideration for lung transplantation for those with severe functional impairment and airflow obstruction

Specific treatment

1. Intravenous purified AAT (augmentation therapy)

Only recommended in individuals with established airflow obstruction from AAT deficiency. Evidence for efficacy is stronger in patients with moderate airflow obstruction (FEV1 35–60% predicted) than for those with severe obstruction. Not recommended in individuals without clinically demonstrable emphysema.

AAT = Alpha-1 antitrypsin; FEV₁ = forced expiratory volume in 1 second.