Esther Vicente1,2, Ainara Ruiz de Sabando3,4,5, Fermín García4, Itziar Gastón6, Eva Ardanaz7,8, María A Ramos-Arroyo3,4. 1. Community Health Observatory Section, Instituto de Salud Pública y Laboral de Navarra, IdiSNA (Navarre Institute for Health Research), Pamplona, Spain. evicentc@navarra.es. 2. Department of Health Sciences, Universidad Pública de Navarra, IdiSNA, Pamplona, Spain. evicentc@navarra.es. 3. Department of Health Sciences, Universidad Pública de Navarra, IdiSNA, Pamplona, Spain. 4. Department of Medical Genetics, Complejo Hospitalario de Navarra, IdiSNA, Pamplona, Spain. 5. Fundación Miguel Servet-Navarrabiomed, IdiSNA, Pamplona, Spain. 6. Department of Neurology, Complejo Hospitalario de Navarra, IdiSNA, Pamplona, Spain. 7. Community Health Observatory Section, Instituto de Salud Pública y Laboral de Navarra, IdiSNA (Navarre Institute for Health Research), Pamplona, Spain. 8. CIBER of Epidemiology and Public Health (CIBERESP), Madrid, Spain.
Abstract
BACKGROUND: There is great heterogeneity on geographic and temporary Huntington disease (HD) epidemiological estimates. Most research studies of rare diseases, including HD, use health information systems (HIS) as data sources. This study investigates the validity and accuracy of national and international diagnostic codes for HD in multiple HIS and analyses the epidemiologic trends of HD in the Autonomous Community of Navarre (Spain). METHODS: HD cases were ascertained by the Rare Diseases Registry and the reference Medical Genetics Centre of Navarre. Positive predictive values (PPV) and sensitivity with 95% confidence intervals (95% CI) were estimated. Overall and 9-year periods (1991-2017) HD prevalence, incidence and mortality rates were calculated, and trends were assessed by Joinpoint regression. RESULTS: Overall PPV and sensitivity of combined HIS were 71.8% (95% CI: 59.7, 81.6) and 82.2% (95% CI: 70.1, 90.4), respectively. Primary care data was a more valuable resource for HD ascertainment than hospital discharge records, with 66% versus 50% sensitivity, respectively. It also had the highest number of "unique to source" cases. Thirty-five per cent of HD patients were identified by a single database and only 4% by all explored sources. Point prevalence was 4.94 (95% CI: 3.23, 6.65) per 100,000 in December 2017, and showed an annual 6.1% increase from 1991 to 1999. Incidence and mortality trends remained stable since 1995-96, with mean annual rates per 100,000 of 0.36 (95% CI: 0.27, 0.47) and 0.23 (95% CI: 0.16, 0.32), respectively. Late-onset HD patients (23.1%), mean age at onset (49.6 years), age at death (66.6 years) and duration of disease (16.7 years) were slightly higher than previously reported. CONCLUSION: HD did not experience true temporary variations in prevalence, incidence or mortality over 23 years of post-molecular testing in our population. Ascertainment bias may largely explain the worldwide heterogeneity in results of HD epidemiological estimates. Population-based rare diseases registries are valuable instruments for epidemiological studies on low prevalence genetic diseases, like HD, as long as they include validated data from multiple HIS and genetic/family information.
BACKGROUND: There is great heterogeneity on geographic and temporary Huntington disease (HD) epidemiological estimates. Most research studies of rare diseases, including HD, use health information systems (HIS) as data sources. This study investigates the validity and accuracy of national and international diagnostic codes for HD in multiple HIS and analyses the epidemiologic trends of HD in the Autonomous Community of Navarre (Spain). METHODS:HD cases were ascertained by the Rare Diseases Registry and the reference Medical Genetics Centre of Navarre. Positive predictive values (PPV) and sensitivity with 95% confidence intervals (95% CI) were estimated. Overall and 9-year periods (1991-2017) HD prevalence, incidence and mortality rates were calculated, and trends were assessed by Joinpoint regression. RESULTS: Overall PPV and sensitivity of combined HIS were 71.8% (95% CI: 59.7, 81.6) and 82.2% (95% CI: 70.1, 90.4), respectively. Primary care data was a more valuable resource for HD ascertainment than hospital discharge records, with 66% versus 50% sensitivity, respectively. It also had the highest number of "unique to source" cases. Thirty-five per cent of HDpatients were identified by a single database and only 4% by all explored sources. Point prevalence was 4.94 (95% CI: 3.23, 6.65) per 100,000 in December 2017, and showed an annual 6.1% increase from 1991 to 1999. Incidence and mortality trends remained stable since 1995-96, with mean annual rates per 100,000 of 0.36 (95% CI: 0.27, 0.47) and 0.23 (95% CI: 0.16, 0.32), respectively. Late-onset HDpatients (23.1%), mean age at onset (49.6 years), age at death (66.6 years) and duration of disease (16.7 years) were slightly higher than previously reported. CONCLUSION:HD did not experience true temporary variations in prevalence, incidence or mortality over 23 years of post-molecular testing in our population. Ascertainment bias may largely explain the worldwide heterogeneity in results of HD epidemiological estimates. Population-based rare diseases registries are valuable instruments for epidemiological studies on low prevalence genetic diseases, like HD, as long as they include validated data from multiple HIS and genetic/family information.
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