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.

Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry / 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; Iolascon, Achille; Franzese, Adriana; Sanduzzi Zamparelli, Alessandro; Tessitore, Alessandro; Romano, Alfonso; Venosa, Alfredo; Nunzia Olivieri, Alma; Bianco, Andrea; La Manna, Angela; Cerbone, Anna Maria; Spasiano, Anna; Agnese Stanziola, Anna; Colao, Annamaria; De Bellis, Annamaria; Gambale, Antonella; Toriello, Antonella; Tufano, Antonella; Ciampa, Antonio; Maria Risitano, Antonio; Pisani, Antonio; Russo, Antonio; Volpe, Antonio; De Martino, Bernardo; Amato, Bruno; De Fusco, Carmela; Piscopo, Carmelo; Selleri, Carmine; Tucci, Celeste; Pignata, Claudio; Cioffi, Daniela; Melis, Daniela; Pasquali, Daniela; De Brasi, Daniele; Spitaleri, Daniele; De Brasi, Davide; Russo, Domenico; Martellotta, Donata; De Michele, Elisa; Varricchio, Elziario; Miraglia Del Giudice, Emanuele; Coscioni, Enrico; Cimino, Ernesto; Pane, Fabrizio; Tranfa, Fausto; Pollio, Filiberto; Lonardo, Fortunato; Nuzzi, Francesca; Simonelli, Francesca; Trojsi, Francesca; Habetswallner, Francesco; Valentini, Gabriele; Cerbone, Gaetana; Parenti, Giancarlo; Tedeschi, Gioacchino; Capasso, Giovambattista; Battista Rossi, Giovanni; Gaglione, Giovanni; Sarnelli, Giovanni; Argenziano, Giuseppe; Bellastella, Giuseppe; De Michele, Giuseppe; Fiorentino, Giuseppe; Spadaro, Giuseppe; Scala, Iris; Santoro, Lucio; Zeppa, Lucio; Auricchio, Luigi; Elio Adinolfi, Luigi; Alessio, Maria; Amitrano, Maria; Savanelli, Maria Cristina; Russo, Maria Giovanna; Ferrucci, Maria Grazia; Carbone, Maria Teresa; Pellecchia, Maria Teresa; Salerno, Mariacarolina; Melone, Marina; Del Donno, Mario; Vitale, Mario; Triggiani, Massimo; Della Monica, Matteo; Lo Presti, Maurizio; Tenuta, Maurizio; Mignogna, Michele Davide; Schiavulli, Michele; Zacchia, Miriam; Brunetti-Pierri, Nicola; Iovino, Paola; Moscato, Paolo; Iandoli, Raffaele; Scarpa, Raffaele; Russo, Romualdo; Troisi, Salvatore; Sbordone, Sandro; Perrotta, Silverio; Fecarotta, Simona; Sampaolo, Simone; Cicalese, Virgilio. - In: JOURNAL OF PUBLIC HEALTH. - ISSN 1741-3842. - (2021). [10.1093/pubmed/fdab137]

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

Menditto, Enrica;Iolascon, Achille
;
Franzese, Adriana
;
Sanduzzi Zamparelli, Alessandro
;
Colao, Annamaria
;
Tufano, Antonella;Amato, Bruno;Pignata, Claudio
;
Pane, Fabrizio
;
Parenti, Giancarlo
;
Sarnelli, Giovanni;Spadaro, Giuseppe;Auricchio, Luigi
;
Alessio, Maria
;
Salerno, Mariacarolina
;
Mignogna, Michele Davide
;
Brunetti-Pierri, Nicola
;
2021

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.
2021
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry / 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; Iolascon, Achille; Franzese, Adriana; Sanduzzi Zamparelli, Alessandro; Tessitore, Alessandro; Romano, Alfonso; Venosa, Alfredo; Nunzia Olivieri, Alma; Bianco, Andrea; La Manna, Angela; Cerbone, Anna Maria; Spasiano, Anna; Agnese Stanziola, Anna; Colao, Annamaria; De Bellis, Annamaria; Gambale, Antonella; Toriello, Antonella; Tufano, Antonella; Ciampa, Antonio; Maria Risitano, Antonio; Pisani, Antonio; Russo, Antonio; Volpe, Antonio; De Martino, Bernardo; Amato, Bruno; De Fusco, Carmela; Piscopo, Carmelo; Selleri, Carmine; Tucci, Celeste; Pignata, Claudio; Cioffi, Daniela; Melis, Daniela; Pasquali, Daniela; De Brasi, Daniele; Spitaleri, Daniele; De Brasi, Davide; Russo, Domenico; Martellotta, Donata; De Michele, Elisa; Varricchio, Elziario; Miraglia Del Giudice, Emanuele; Coscioni, Enrico; Cimino, Ernesto; Pane, Fabrizio; Tranfa, Fausto; Pollio, Filiberto; Lonardo, Fortunato; Nuzzi, Francesca; Simonelli, Francesca; Trojsi, Francesca; Habetswallner, Francesco; Valentini, Gabriele; Cerbone, Gaetana; Parenti, Giancarlo; Tedeschi, Gioacchino; Capasso, Giovambattista; Battista Rossi, Giovanni; Gaglione, Giovanni; Sarnelli, Giovanni; Argenziano, Giuseppe; Bellastella, Giuseppe; De Michele, Giuseppe; Fiorentino, Giuseppe; Spadaro, Giuseppe; Scala, Iris; Santoro, Lucio; Zeppa, Lucio; Auricchio, Luigi; Elio Adinolfi, Luigi; Alessio, Maria; Amitrano, Maria; Savanelli, Maria Cristina; Russo, Maria Giovanna; Ferrucci, Maria Grazia; Carbone, Maria Teresa; Pellecchia, Maria Teresa; Salerno, Mariacarolina; Melone, Marina; Del Donno, Mario; Vitale, Mario; Triggiani, Massimo; Della Monica, Matteo; Lo Presti, Maurizio; Tenuta, Maurizio; Mignogna, Michele Davide; Schiavulli, Michele; Zacchia, Miriam; Brunetti-Pierri, Nicola; Iovino, Paola; Moscato, Paolo; Iandoli, Raffaele; Scarpa, Raffaele; Russo, Romualdo; Troisi, Salvatore; Sbordone, Sandro; Perrotta, Silverio; Fecarotta, Simona; Sampaolo, Simone; Cicalese, Virgilio. - In: JOURNAL OF PUBLIC HEALTH. - ISSN 1741-3842. - (2021). [10.1093/pubmed/fdab137]
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