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. 2022 Aug 25;44(3):586-594.
doi: 10.1093/pubmed/fdab137.

Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

Giuseppe Limongelli  1 , Stefano Iucolano  1 , Emanuele Monda  1 , Pasquale Elefante  1 , Chiara De Stasio  1 , Imma Lubrano  1 , Martina Caiazza  1 , Marialuisa Mazzella  1 , Fabio Fimiani  1 , Maria Galdo  1 , Giulia De Marchi  1 , Martina Esposito  1 , Marta Rubino  1 , Annapaola Cirillo  1 , Adelaide Fusco  1 , Augusto Esposito  1 , Ugo Trama  1 , Salvatore Esposito  1 , Gioacchino Scarano  1 , Joseph Sepe  1 , Generoso Andria  1 , Valentina Orlando  1 , Enrica Menditto  1 , Paolo Chiodini  1 ; Campania Rare Disease Network
Collaborators, Affiliations

Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

Giuseppe Limongelli et al. J Public Health (Oxf). .

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.

Keywords: Campania region; Covid-19; Italy; patient registry; rare diseases.

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Figures

Fig. 1
Fig. 1
Number of certificates issued in the first 4 months of the years 2018, 2019 and 2020.
Fig. 2
Fig. 2
(A) Number of certificates issued in the first 4 months of the years 2018–2020 among the six hospitals with the largest activity of certification. (B) Number of certificates issued in April of the years 2018–2020 among the six hospitals with the largest activity of certification.
Fig. 3
Fig. 3
(A) Number of certificates issued in the first 4 months of the years 2018–2020 for each rare disease macro-group. (B) Number of certificates issued in April of the years 2018–2020 for each rare disease macro-group.
See this image and copyright information in PMC

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