Ultra-rare disease: an European perspective

摘要

In the past few years, interest in rare diseases has grown, as demonstrated by the agendas of politicians and health authorities, but too little attention is still paid to ultra-rare diseases. Although no legal definition of an “ultra-rare” disease has yet been established, this subcategory was informally introduced by the National Institute for Health and Care Excellence for drugs with indications for diseases that have a prevalence 1 per 50 000 persons [1–3]. In the respiratory field, there are several ultra-rare diseases, such as lymphangioleiomatosis, pleuro-parenchymal fibroelastosis, pulmonary alveolar microlithiasis, ataxia telangiectasia, pulmonary alveolar proteinosis, lysosomal storage diseases, pulmonary dendriform ossification, light chain deposition disorders, Birt–Hogg–Dubè syndrome, rare vascular disorders and vasculitis along with several others [4].