Diagnosis and management of α1-antitrypsin deficiency

Educational aims

1. To increase awareness of α1-antitrypsin (AAT) deficiency and to describe the characteristics of this relatively common inherited disorder that can lead to lung disease.

2. To describe methods of patient identification and diagnosis of AAT deficiency.

3. To familiarise the reader with management and treatment options available to AAT-deficient patients.

4. To explain the role of the respiratory professional in the diagnosis and management of AAT-deficient patients.

Summary α1-Antitrypsin (AAT) deficiency is a genetic disorder characterised by a low serum level of AAT, which predisposes individuals to early-onset pulmonary disease, most commonly emphysema. Although it is one of the most common inherited conditions leading to lung disease, AAT deficiency is an under-recognised condition. It is believed that only ∼5% of AAT-deficient individuals have been diagnosed and the vast majority are therefore unaware that they could benefit from lifestyle changes to reduce morbidity (such as smoking cessation), or from the specific therapy that is available. This review describes the role of respiratory professionals in identifying, diagnosing and managing AAT-deficient patients and outlines the therapeutic options available.