A survey in the September issue of Chest reminds us that we are under diagnosing alpha 1antitrypsin deficiency (AATD). The study of 1020 patients with AATD revealed an average of 8.3 years from symptom onset to diagnosis. 20% of patients went through four or more physicians before being diagnosed. Timeliness of diagnosis did not improve between 1968 and 2003.
AATD is easy to diagnose, so why are we doing so poorly? Clinicians under appreciate the fact that AATD can be present in any patient with COPD. It is not, as popularly believed, confined to the rare non-smoker with emphysema or to those patients with primarily lower lobe disease. Moreover, it may not be widely known that current guidelines cast a broad net for screening patients for AATD. In reviewing this topic I was surprised to learn that the World Health Organization, the American Thoracic Society and the European Respiratory Society recommend that ALL patients with COPD be tested for AATD.
The joint statement of the American Thoracic Society/European Respiratory Society was published in the American Journal of Respiratory and Critical Care Medicine in 2003. Here is a partial list of patients for whom screening was definitely recommended (type A recommendation):
1) Symptomatic patients with a diagnosis of emphysema or COPD
2) Patients with asthma whose pulmonary function does not completely normalize after aggressive treatment
3) Individuals with unexplained liver disease
4) Asymptomatic patients with persistent obstruction on pulmonary function tests with known risk factors
5) Adults with necrotizing panniculitis