Primary Sclerosing Cholangitis: Burden of Disease and Mortality Using Data from the National Rare Diseases Registry in Italy

Marco Carbone, Yllka Kodra, Adele Rocchetti, Valerio Manno, Giada Minelli, Alessio Gerussi, Vincenzo Ronca, Federica Malinverno, Laura Cristoferi, Annarosa Floreani, Pietro Invernizzi, Susanna Conti and Domenica Taruscio
Additional contact information
Marco Carbone: Division of Gastroenterology, Centre for Autoimmune Liver Disease, European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Department of Medicine and Surgery, University of Milan-Bicocca, 20126 Milan, Italy
Yllka Kodra: National Center for Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy
Adele Rocchetti: National Center for Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy
Valerio Manno: Service of Statistics Istituto Superiore di Sanità, 00161 Rome, Italy
Giada Minelli: Service of Statistics Istituto Superiore di Sanità, 00161 Rome, Italy
Alessio Gerussi: Division of Gastroenterology, Centre for Autoimmune Liver Disease, European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Department of Medicine and Surgery, University of Milan-Bicocca, 20126 Milan, Italy
Vincenzo Ronca: Division of Gastroenterology, Centre for Autoimmune Liver Disease, European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Department of Medicine and Surgery, University of Milan-Bicocca, 20126 Milan, Italy
Federica Malinverno: Division of Gastroenterology, Centre for Autoimmune Liver Disease, European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Department of Medicine and Surgery, University of Milan-Bicocca, 20126 Milan, Italy
Laura Cristoferi: Division of Gastroenterology, Centre for Autoimmune Liver Disease, European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Department of Medicine and Surgery, University of Milan-Bicocca, 20126 Milan, Italy
Annarosa Floreani: Department of Surgery, Oncology and Gastroenterology, University of Padua, 35100 Padua, Italy
Pietro Invernizzi: Division of Gastroenterology, Centre for Autoimmune Liver Disease, European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Department of Medicine and Surgery, University of Milan-Bicocca, 20126 Milan, Italy
Susanna Conti: Service of Statistics Istituto Superiore di Sanità, 00161 Rome, Italy
Domenica Taruscio: National Center for Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy

IJERPH, 2020, vol. 17, issue 9, 1-10

Abstract: Introduction: Studies on the epidemiology of primary sclerosing cholangitis (PSC) are mainly based on tertiary referral centers; and are retrospective case series susceptible to selection bias . The aim of this study was to estimate incidence; survival and cause of mortality of PSC in Italy; using population-based data. Methods: Data collected from the National Rare Diseases Registry (RNMR) and the National Mortality Database (NMD) were integrated and analyzed. Results: We identified 502 PSC incident cases. The crude incidence rate between 2012 and 2014 was 0.10 per 100,000 individuals. Sixty percent were male; mean age at disease onset and at diagnosis were 33 and 37 years; respectively; highlighting a mean diagnostic delay of 4 years. The rate of interregional mobility was 12%. Ten-year survival was 92%. In 32% of cases the cause of death was biliary-related; 12% died of biliary or gallbladder cancer. Conclusions: For rare diseases such as PSC; population-based cohort’s studies are of paramount importance. Incidence rates of PSC in Italy are markedly lower and survival much longer than the ones reported from tertiary; single-centre series. Moreover; the diagnostic delay and the patient interregional mobility highlights the need for increasing awareness on the disease and for resource reallocation among Italian regions within the National Health Service

Keywords: rare diseases; primary sclerosing cholangitis; epidemiology; registry; autoimmune liver disease; cholestatic liver disease (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2020
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