1. Rare diseases: What rheumatologists need to know?
- Author
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Renan Rodrigues Neves Ribeiro do Nascimento, Daniela Gerent Petry Piotto, Eutilia Andrade Medeiros Freire, Fabricio de Souza Neves, Flavio Roberto Sztajnbok, Blanca Elena Rios Gomes Bica, Frederico Augusto Gurgel Pinheiro, Katia Tomie Kozu, Ivanio Alves Pereira, Valderilio Feijo Azevedo, Rafael Alves Cordeiro, Henrique Ayres Mayrink Giardini, Marco Túlio Muniz Franco, Margarida de Fátima Fernandes Carvalho, Nilton Salles Rosa-Neto, and Sandro Félix Perazzio
- Subjects
Rare diseases ,Orphan diseases ,Rheumatic diseases ,Diseases of the musculoskeletal system ,RC925-935 ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Abstract Although the terms “rare diseases” (RD) and “orphan diseases” (OD) are often used interchangeably, specific nuances in definitions should be noted to avoid misconception. RD are characterized by a low prevalence within the population, whereas OD are those inadequately recognized or even neglected by the medical community and drug companies. Despite their rarity, as our ability on discovering novel clinical phenotypes and improving diagnostic tools expand, RD will continue posing a real challenge for rheumatologists. Over the last decade, there has been a growing interest on elucidating mechanisms of rare autoimmune and autoinflammatory rheumatic diseases, allowing a better understanding of the role played by immune dysregulation on granulomatous, histiocytic, and hypereosinophilic disorders, just to name a few. This initiative enabled the rise of innovative targeted therapies for rheumatic RD. In this review, we explore the state-of-the art of rare RD and the critical role played by rheumatologists in healthcare. We also describe the challenges rheumatologists may face in the coming decades.
- Published
- 2024
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