Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry
Giuseppe Limongelli, Stefano Iucolano, Emanuele Monda, Pasquale Elefante, Chiara De Stasio, Imma Lubrano, Martina Caiazza, Marialuisa Mazzella, Fabio Fimiani, Maria Galdo, Giulia De Marchi, Martina Esposito, Marta Rubino, Annapaola Cirillo, Adelaide Fusco, Augusto Esposito, Ugo Trama, Salvatore Esposito, Gioacchino Scarano, Joseph Sepe, Generoso Andria, Valentina Orlando, Enrica Menditto, Paolo Chiodini, Campania Rare Disease Network, Achille Iolascon, Adriana Franzese, Alessandro Sanduzzi, Alessandro Tessitore, Alfonso Romano, Alfredo Venosa, Alma Nunzia Olivieri, Andrea Bianco, Angela La Manna, Anna Maria Cerbone, Anna Spasiano, Anna Agnese Stanziola, Annamaria Colao, AnnamariaDe Bellis, Antonella Gambale, Antonella Toriello, Antonella Tufano, Antonio Ciampa, Antonio M. Risitano, Antonio Pisani, Antonio Russo, Antonio Volpe, Bernardo De Martino, Bruno Amato, Carmela Fusco, Carmelo Piscopo, Carmine Selleri, Celeste Tucci, Claudio Pignata, Daniela Cioffi, Daniela Melis, Daniela Pasquali, Daniele De Brasi, Daniele Spitaleri, Davide De Brasi, Domenico Russo, Donata Martellotta, Elisa De Michele, Elziario Varricchio, Emanuele Miraglia del Giudice, Enrico Coscioni, Ernesto Cimino, Fabrizio Pane, Fausto Tranfa, Filiberto Pollio, Fortunato Lonardo, Francesca Nuzzi, Francesca Simonelli, Francesca Trojsi, Francesco Habetswallner, Gabriele Valentini, Gaetana Cerbone, Giancarlo Parenti, Gioacchino Tedeschi, Giovambattista Capasso, Giovanni Battista Rossi, Giovanni Gaglione, Giovanni Sarnelli, Giuseppe Argenziano, Giuseppe Bellastella, Giuseppe De Michele, Giuseppe Fiorentino, Giuseppe Spadaro, Iris Scala, Lucio Santoro, Lucio Zeppa, Luigi Auricchio, Luigi Elio Adinolfi, Maria Alessio, María Amitrano, Maria Cristina Savanelli, Maria Giovanna Russo, M Ferrucci, Maria Teresa Carbone, Maria Teresa Pellecchia
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.