Prevalence_of_rare_diseases_by_decreasing_prevalence_or_cases.pdf

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1、PrevalencedistributionofrarediseasesOrphanetReportSeries200180160RareDiseasescollection14012010080Numberofdiseases60November2013November2009Number24020005101520253035404550Estimatedprevalence(/100000)Prevalenceofrarediseases:BibliographicdataListedinordero

2、fdecreasingprevalenceornumberofpublishedcaseswww.orpha.net20102206MethodologyAsystematicsurveyoftheliteratureisbeingUpdatedDataperformedinordertoprovideanestimateoftheNewinformationfromavailabledatasources:newprevalenceofrarediseasesinEurope.Anupdatedscien

3、tificpublications,greyliterature,expertreportwillbepublishedregularlyandwillreplaceopinion.thepreviousversion.ThisupdatecontainsnewepidemiologicaldataandmodificationstoexistingdataforwhichnewinformationhasbeenmadeLimitationofthestudyavailable.Theexactpreva

4、lencerateofeachrarediseaseisdifficulttoassessfromtheavailabledatasources.SearchstrategyThereisalowlevelofconsistencybetweenstudies,apoordocumentationofmethodsused,confusionThesearchstrategyiscarriedoutusingseveraldatabetweenincidenceandprevalence,and/orcon

5、fusionsources:betweenincidenceatbirthandlife-longincidence.-Websites:Orphanet,e-medicine,GeneClinics,EMAThevalidityofthepublishedstudiesistakenforandOMIM;grantedandnotassessed.Itislikelythatthere-Registres,RARECAREisanoverestimationformostdiseasesasthefew-

6、Medlineisconsultedusingthesearchalgorithm:publishedprevalencesurveysareusuallydoneinregionsofhigherprevalenceandareusuallybased«Diseasenames»ANDEpidemiology[MeSH:NoExp]onhospitaldata.Therefore,theseestimatesareanORIncidence[Title/abstract]ORPrevalence[Titl

7、e/indicationoftheassumedprevalencebutNovemberabstract]OREpidemiology[Title/abstract];notbeaccurate.-Medicalbooks,greyliteratureandreportsfromexpertsarealsoimportantsourcesofdata.CollecteddataPrevalencevaluesprovidedarethemeanofthehighestandlowestvaluescoll

8、ected.-Forcongenitaldiseaseswithbirth-onset,prevalence=birthprevalencex(patientlifeexpectancy/generalpopulationlifeexpectancy);-Fortheotherrarediseases,prevalence=incidencexrarediseasemeanduration;Whennopreva