Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry. (13th May 2021)

• Record Type: Journal Article
• Authors: Limongelli, Giuseppe; Iucolano, Stefano; Monda, Emanuele; Elefante, Pasquale; De Stasio, Chiara; Lubrano, Imma; Caiazza, Martina; Mazzella, Marialuisa; Fimiani, Fabio; Galdo, Maria; De Marchi, Giulia; Esposito, Martina; Rubino, Marta; Cirillo, Annapaola; Fusco, Adelaide; Esposito, Augusto; Trama, Ugo; Esposito, Salvatore; Scarano, Gioacchino; Sepe, Joseph; Andria, Generoso; Orlando, Valentina; Menditto, Enrica; Chiodini, Paolo
• Is Part Of: Journal of public health. Volume 44:Number 3(2022)
• Page Start: 586
• Page End: 594
• Publication Date: 2021-05-13
• Subjects: Campania region -- Covid-19 -- Italy -- patient registry -- rare diseases; Public health -- Periodicals; Public health -- Great Britain -- Periodicals; Medical policy -- Periodicals; Medical policy -- Great Britain -- Periodicals; 362.1
• DOI: 10.1093/pubmed/fdab137
• Languages: English
• ISSNs: 1741-3842

Abstract

Abstract: Background: The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this period. Methods: To describe the impact of the Covid-19 pandemic on the diagnosis of patients with rare diseases, a retrospective analysis of the Campania Region Rare Disease Registry was performed. A tailored questionnaire was sent to rare disease experts to investigate major issues during the emergency period. Results: Prevalence of new diagnoses of rare disease in March and April 2020 was significantly lower than in 2019 (117 versus 317, P < 0.001 and 37 versus 349, P < 0.001, respectively) and 2018 (117 versus 389, P < 0.001 and 37 versus 282, P < 0.001, respectively). Eighty-two among 98 rare disease experts completed the questionnaire. Diagnostic success (95%), access to diagnosis (80%) and follow-up (72%), lack of Personal Protective Equipment (60%), lack of Covid-19 guidelines (50%) and the need for home therapy (78%) were the most important issues raised during Covid-19 outbreak. Conclusions: This study describes the effects of the Covid-19 outbreak on the diagnosis of rare disease in a single Italian region and investigates potential issues of diagnosis and management during this period.