Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry
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 ,   Campania Rare Disease Network, Iolascon Achille , Franzese Adriana , Zamparelli Alessandro Sanduzzi , Tessitore Alessandro , Romano Alfonso , Venosa Alfredo , Olivieri Alma Nunzia , Bianco Andrea , Manna Angela La , Cerbone Anna Maria , Spasiano Anna , Stanziola Anna Agnese , Colao Annamaria , Bellis AnnamariaDe , Gambale Antonella , Toriello Antonella , Tufano Antonella , Ciampa Antonio , Risitano Antonio Maria , 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 , Del Giudice Emanuele Miraglia , 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 , Rossi Giovanni Battista , Gaglione Giovanni , Sarnelli Giovanni , Argenziano Giuseppe , Bellastella Giuseppe , De Michele Giuseppe , Fiorentino Giuseppe , Spadaro Giuseppe , Scala Iris , Santoro Lucio , Zeppa Lucio , Auricchio Luigi , Adinolfi Luigi Elio , 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 , Monica Matteo Della , Presti Maurizio Lo , 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 
Published: April 2021

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 &lt; 0.001 and 37 versus 349, P &lt; 0.001, respectively) and 2018 (117 versus 389, P &lt; 0.001 and 37 versus 282, P &lt; 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.