Research Topic

“Not So Rare” Lung Conditions

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Rare diseases are defined as those conditions affecting fewer than 200,000 individuals in the United States or fewer than 1 in 2,000 people in the European Union.

However, at present there’s no consensus on how to classify rare lung diseases, it is widely agreed that they encompass a broad spectrum ...

Rare diseases are defined as those conditions affecting fewer than 200,000 individuals in the United States or fewer than 1 in 2,000 people in the European Union.

However, at present there’s no consensus on how to classify rare lung diseases, it is widely agreed that they encompass a broad spectrum of entities. It is estimated that they affect approximately 1.2-2.5 million people in North America and 1.5-3 million people in Europe. Therefore, while individually rare lung diseases affect a limited number of subjects, it is evident that collectively they have a significant socio-economic impact upon the population at large.

Furthermore, aside from the commonly defined rare lung diseases, additional pulmonary morbid conditions and lung disease endotypes with slightly higher prevalence but showing peculiar features and affecting well-selected populations exist.

Hence it is vital to fully understand firstly the epidemiology and subsequently the pathogenesis and clinical course of these disorders, as well as the stance and actions adopted by the main regulatory boards (i.e. FDA and EMA) in this field. Through a greater understanding of these aspects, significant progress can, in fact, be made in optimizing management, adopting tailored strategies, containing healthcare costs and utilizing resources efficiently. A deeper knowledge of the pathobiology of rare lung diseases may offer significant conclusions for both the pathogenesis and management of more common pulmonary disorders.

The present volume provides a state of the art, evidence-based and expert review of the rare pulmonary diseases with major scientific relevance and clinical impact together with an overview on the “not so rare” lung conditions.


Keywords: Rare diseases, Orphan diseases, Idiopathic Pulmonary Fibrosis, Interstitial Lung Diseases, Cystic Fibrosis, Severe Asthma


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