Validity of sources of information used for the identification of Wilson’s disease in the Registries

Autor: S Guardiola Vilarroig, Oscar Zurriaga, L Páramo Rodríguez, S Moreno Marro, C Cavero Carbonell, L Barrachina Bonet
Rok vydání: 2019
Předmět:
Zdroj: Web of Science
ISSN: 1464-360X
1101-1262
DOI: 10.1093/eurpub/ckz186.625
Popis: Background Objective: to determine the sources of information used by the Regional Population-based Registries of Rare Diseases (RD) (RRD) for the identification of the Wilson’s Disease (WD) during the period 2010-2015, and to evaluate the validity of these sources. Methods A cross-sectional study was conducted involving 14 different Spanish Regions and the RD Research Institute. Possible cases with WD diagnosis included in RRD were identified with codes 275.1 in ICD9CM or E83.0 in ICD10 (unspecific codes referring to ’Disorders of copper metabolism’), and they were confirmed or not through a validation process in which clinical documentation was reviewed. Each Region sent their database to the coordinator (Valencian Region), which calculated the positive predictive value (PPV) for each source used individually and for the combination of two sources. Results 995 records were identified and reviewed. 444 were confirmed, 475 were discarded and 76 were considered as possible. The PPV for all sources was 44.6%. The Hospital Discharge Database (CMBD) stands out as the main source of detection of possible cases with a PPV of 42.1%, followed by the Orphan Drugs Registry (ODR) with a higher PPV (80.8%) and by the Mortality Registry with a lower PPV (16.7%). The Clinical History of Primary Care (PC) obtained a VPP of 55.8%, but was only used in three Spanish Regions. The PPV for the combinations of two sources of information was 94.5% for the CMBD with the ODR, 91.5% for the ODR with PC and 73.9% for the CMBD with PC. Conclusions Although CMBD has been the most widely used source, its PPV is not the highest. However, the ODR is the source with the highest PPV. The introduction in 2016 in the CMBD of the Spanish version of the ICD10 which includes a specific code for the WD (E83.01) is expected to improve this value. Cases identified by both (CMBD and ODR) may be automatically validated due to the high PPV obtained. Funding: Fundació Per Amor a l’Art and Obra Social “la Caixa” Key messages Wilson’s disease is one of the 10 Rare Diseases included in the Spanish Registry of Rare Diseases but the validity of sources of information hadn’t been studied. The introduction in 2016 in the Spanish Hospital Discharge Database of the Spanish version of the ICD10 will improve the validity of the sources of information used by the Registries of Rare Diseases.
Databáze: OpenAIRE
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