Chronic obstructive pulmonary disease, with and without alpha-1-antitrypsin deficiency: management practices in the UK

Alpha-1-antitrypsin deficiency is a common genetic defect associated with t he development of severe and rapidly progressive lung disease. This study w as undertaken to determine whether respiratory physicians manage patients w ith alpha-1-antitrypsin (AAT) deficiency differently from patients with chr onic obstructive pulmonary disease (COPD) without alpha-1-antitrypsin defic iency. In addition we obtained physicians' views on who should be tested fo r AAT deficiency. A questionnaire was administered to 88 respiratory physicians based through out the U.K. (44 in teaching hospitals). The main outcome measures were pul monary function tests, radiological assessment, frequency of repeat testing , follow-up and screening protocol for alpha-1-antitrypsin deficiency. Subjects with homozygous (PiZ) AAT deficiency were more likely to: 1. have baseline and full pulmonary function testing including dynamic how rates, s tatic lung volumes, and gas transfer; 2. have more comprehensive assessment with high resolution computed tomography (HRCT) thorax and repeated radiol ogical assessment (with annual chest radiography); 3. be followed-up routin ely; and 4. have family members tested for alpha-l-antitrypsin deficiency. Testing remains limited for AAT deficiency and is mainly restricted to youn g patients with COPD. COPD assessment and management is influenced by the presence of AAT deficie ncy, which may reflect the poorer prognosis of such patients due to more ra pid decline. Assessment and monitoring could be simplified to forced expire d manoeuvres, although limited HRCT thorax and tests of gas transfer may pr ove more sensitive to progression of emphysema. Testing for AAT deficiency in the U.K. remains restricted, which will influence the detection rate for AAT deficiency. A wider policy of testing as advocated by the WHO will det ect more patients and also influence our understanding of the natural histo ry of the condition.