Early Diagnosis of Rare Diseases with a Focus on Pulmonary Arterial Hypertension: A Narrative Review

Health outcomes for rare diseases can be greatly affected by timely diagnosis.This paper presents a narrative review of current literature on rare diseases, with a focuson Pulmonary Arterial Hypertension (PAH), to identify needs for early diagnosisinitiatives. The review assessed: what needs to be done, what is currently being done,and what are the approaches or change theories that underlie these initiatives.Literature from online key-word searches included academic articles pertaining todiagnostic methods and physician surveys, and reports from advocacy groups andhealth authorities. Findings centred on the needs for: physician awareness/education,public awareness/education, research needs, consolidation of disease information, andthe need for system-wide early diagnosis strategies. Recommendations highlightedsteps to promote awareness and education among physicians and the public, investigatetheories of behaviour change, and develop and diffuse evaluation criteria of earlydiagnosis initiatives.