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• W2775443344 startingPage "419" @default.
• W2775443344 abstract "Rare lung diseases encompass a broad spectrum of conditions and affect an estimated 1.2–2.5 million people in North America and 1.5–3 million people in Europe. While individual rare lung diseases affect less than 1 in 2000 individuals, collectively they have a significant impact upon the population at large. Hence it is vital to understand firstly the epidemiology and subsequently the pathogenesis and clinical course of these disorders. Through a greater understanding of these aspects of disease, progress can be made in reducing symptoms, containing healthcare costs and utilizing resources efficiently. Furthermore, a greater understanding of the pathobiology of rare lung diseases can inform both the pathogenesis and management of more common pulmonary disorders. In this chapter we review how epidemiological approaches and the utilization of patient registries has improved the knowledge and management of rare lung diseases. We further focus on the epidemiology of several of the more widely known rare pulmonary disorders, including idiopathic pulmonary fibrosis (IPF), cystic fibrosis (CF) and alpha-1 antitrypsin deficiency (AATD). To conclude we describe how patient advocacy groups and foundations have driven advances in research and management of ultra-rare lung diseases, namely, the major strides made in the management and understanding of lymphangioleiomyomatosis (LAM) and pulmonary alveolar proteinosis (PAP). We conclude that the models used to study some of the rarest of diseases may be successfully adopted by other rare and common disease communities, leading to improved care and the possibility of novel therapeutic options." @default.
• W2775443344 created "2017-12-22" @default.
• W2775443344 creator A5001233783 @default.
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• W2775443344 creator A5029400082 @default.
• W2775443344 creator A5086486920 @default.
• W2775443344 date "2017-01-01" @default.
• W2775443344 modified "2023-10-17" @default.
• W2775443344 title "Epidemiology of Rare Lung Diseases: The Challenges and Opportunities to Improve Research and Knowledge" @default.
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