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

International Journal of Environmental Research and Public Health

Annarosa Floreani¹  Alessio Gerussi²  Marco Carbone²  Vincenzo Ronca²  Federica Malinverno²  Pietro Invernizzi²  Laura Cristoferi²  Yllka Kodra³  Domenica Taruscio³  Adele Rocchetti³  Susanna Conti⁴  Giada Minelli⁴  Valerio Manno⁴ 

[1] Department of Surgery, Oncology and Gastroenterology, University of Padua, 35100 Padua, Italy;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;National Center for Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy;Service of Statistics Istituto Superiore di Sanità, 00161 Rome, Italy;

关键词: rare diseases;    primary sclerosing cholangitis;    epidemiology;    registry;    autoimmune liver disease;    cholestatic liver disease;   

DOI  :  10.3390/ijerph17093095

来源: DOAJ

【 摘 要 】

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

【 授权许可】

Unknown