What is the knowledge on alpha-1 antitrypsin deficiency among Italian pulmonologists?

Introduction. Alpha-1 antitrypsin Deficiency (AATD) is a genetic disorder conferring increased risk of developing lung and liver disease. Its prevalence in Italy is not clearly ascertained but certainly there is a great discrepancy between expected and observed cases. Knowledge of a disease is a pre-condition to diagnose it. Aim of the present study was to ascertain the status of the knowledge on AATD among Italian Pulmonologists. Materials and methods. An electronic Survey on AATD was designed. The Survey was repeatedly electronically sent to 250 Heads of Pulmonary Departments in Italy between September and December 2011. It comprised a general and a specific part on AATD, including eight questions. Questions were focused on clinical characteristics, prevalence, diagnosis and treatment of pulmonary manifestations. For each question three answers were available, only one was correct. Results. Only 21.5% of pulmonologists participated to the Survey. The majority of participants gave a correct answer to questions regarding: clinical manifestations, % of subject with COPD affected by AATD, how to diagnose AATD, patients at risk of AATD to be tested for it, differences between treatment of COPD without vs. with AATD, indications to replacement therapy (RT) with exogenous AAT, GOLD stage in which RT is more effective, while the majority of participants thought that AATD in Europe is much rarer (1/20.000) than what is estimated to be (1/5.000). Discussion. The data show that Italian pulmonologists are aware of AATD and are knowledgeable about this condition. However, the response rate was low questioning the representativeness of the examined sample. In addition the majority of participant believe that AATD in Italy is much rarer than what expected from available genetic epidemiology data.