Knowledge of Rare Respiratory Diseases among Paediatricians and Medical School Students

Abstract

Alpha-1-antitrypsin deficiency (AATD) and primary ciliary dyskinesia (PCD) are underdiagnosed rare diseases showing a median diagnostic delay of five to ten years, which has negative effects on patient prognosis. Lack of awareness and education among healthcare professionals involved in the management of these patients have been suggested as possible causes. Our aim was to assess knowledge of these diseases among paediatricians and medical school students to determine which knowledge areas are most deficient. A survey was designed with questions testing fundamental aspects of the diagnosis and treatment of AATD and PCD. A score equal to or greater than 50% of the maximum score was set as the level necessary to ensure a good knowledge of both diseases. Our results indicate a profound lack of knowledge of rare respiratory diseases among paediatric professionals and medical students, suggesting that it is necessary to increase rare respiratory diseases training among all physicians responsible for suspecting and diagnosing them; this will allow early diagnosis and the setup of preventive measures and appropriate early-stage treatment. The first step in closing this knowledge gap could be to include relevant material in the medical syllabus.

Keywords: alpha-1 antitrypsin deficiency; primary ciliary dyskinesia; rare respiratory diseases.

Figure 1

Alpha-1 Antitrypsin Deficiency (AATD) and Primary Ciliary Dyskinesia (PCD) knowledge in paediatric specialists in relation to years of professional experience: No group reached the minimum score required to make an early diagnosis and to adopt the appropriate measurements for correct management of patients with AATD (A) or PCD (B) regardless of years of professional experience. Maximum scores were 7 points for the AATD and 17 for the PCD tests.