When should I consider referring a patient with Alpha-1 Antitrypsin Deficiency to a specialist for further evaluation or management?

Consider referring a patient with Alpha-1 Antitrypsin Deficiency (AATD) to a respiratory specialist for further evaluation or management if:

• The patient is under 40 years of age and/or there is a family history of Alpha-1 Antitrypsin Deficiency, to confirm diagnosis, consider therapy options, and initiate family screening.
• There is diagnostic uncertainty or symptoms disproportionate to lung function tests, to confirm diagnosis and optimise therapy.
• The patient has severe or rapidly worsening COPD symptoms, such as FEV1 less than 30% predicted or rapid decline in lung function.
• There are frequent respiratory infections, to assess preventable factors and exclude other conditions like bronchiectasis.
• There is suspicion of cor pulmonale or other complications related to lung disease.
• Assessment is needed for advanced therapies such as oxygen therapy, long-term non-invasive ventilation, nebuliser therapy, or lung surgery.

Specialist referral is important to confirm diagnosis, consider potential treatments including alpha-1 antitrypsin replacement therapy (though not routinely recommended), and to screen family members for AATD. Multidisciplinary management by respiratory specialists is advised for optimal care.

These referral criteria align with NICE and CKS guidance on COPD and Alpha-1 Antitrypsin Deficiency management in the UK.

References: ¹,²