General practitioners and rare lung diseases: a task force for the development of rare lung diseases educational material

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Abstract
Rare diseases are defined by a limited prevalence of ≤5 cases per 10 000 individuals in Europe [1]. This definition includes around 8000 diseases, many of which are unknown not only to the public but also to the vast majority of healthcare professionals and text books. It is estimated that, as a whole, rare diseases affect around 25 to 30 million people in Europe. Most rare diseases are chronic and debilitating and appear in early childhood or young adulthood, accounting for a significant proportion of infant mortality and childhood/life-long disability. Rare diseases have a number of problems in common: 1) being “invisible” to the healthcare systems; 2) the paucity of experts; 3) the lack of appropriate treatments; and 4) the social exclusion faced by patients and their families [1]. Specific coordinated initiatives in the field of rare diseases are required so as to assure equity in the provision of care, development of best practice, and adequate information for the healthcare professionals and society at large. General Practitioners need support to recognise rare lung disorders and advise patients on the best available care We thank all GPs who voluntarily replied to our questionnaires. We are indebted to N. Chavannes for his help in recruiting GPs through a website and to D. Vallese who helped in collecting and analysing the data throughout the Task Force and revised and corrected the text of the reports. The members of the Task Force are as follows. Chairs: B Balbi and K.H. Carlsen. Coordinator: P. Baiardi. Members: S. Ayme and L. Fregonese (experts in rare diseases); L. Nicod, J-F. Cordier and C. Robalo Cordeiro Jr (adult pulmonologist); A. Boehler (lung transplant specialist); N. Chavannes and M. Levy (adult primary care physicians); A. Ostrem and B. Stallberg (paediatric primary care physicians); G. Hedlin, J. de Jongste and F. de Benedictis (paediatric pulmonologist); L. Colm and I. Annesi-Maesano (public health experts); A. Kole, V. Bottarelli and Eurodis (patient representatives).

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