title: [Diagnostic delay of rare diseases in Europe and in Hungary].
abstract: The long diagnostic delay is a characteristic problem of rare disease patients.
  
  
  OBJECTIVE
  Diagnostic delay was studied in 14 countries by EurordisCare2 involving patient organizations.
  
  
  METHODS
  252 Hungarian patients (cystic fibrosis; Duchenne muscular dystrophy; tuberous sclerosis, retinitis pigmentosa, and Williams' syndrome) completed the questionnaires.
  
  
  RESULTS
  The median delay was longer in Hungary than in Europe (cystic fibrosis: 227 vs. 45 days; Duchenne muscular dystrophy: 467 vs. 360 days; tuberous sclerosis: 155 vs. 120 days). Patients' experience was similar in Hungary and in Europe. The proportion of misdiagnosis was 30.8% in Hungary (Europe: 41%), 34.8% of patients got diagnosis outside of living place region (EU: 26%) and 19.9% of them found the personal expenses too high (EU: 10%). Delivery of the diagnosis was unnecessary according to 27.4% of Hungarian patients (EU: 35%).
  
  
  CONCLUSIONS
  The qualitative survey demonstrated that the problems with the diagnosis of rare diseases are widespread, the identified areas require interventions, and it confirmed the importance of centralized care.
authors: Debreceni Egyetem, Orvos- és Egészségtudományi Centrum, Népegészségügyi Kar, Megelőző Orvostani Intézet, Biostatisztikai és Epidemiológiai Tanszék Debrecen Kassai út 26. 4012, Hungary.
authors: Anett
authors: A
authors: Földvári
authors: Ildikó
authors: I
authors: Szy
authors: János
authors: J
authors: Sándor
authors: Gábor
authors: G
authors: Pogány
authors: György
authors: G
authors: Kosztolányi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000453:epidemiology; D057210:Delayed Diagnosis / Q000706:statistics & numerical data*; D003951:Diagnostic Errors / Q000706:statistics & numerical data*; D005060:Europe / Q000453:epidemiology; D005260:Female; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D007223:Infant; D008297:Male; D008875:Middle Aged; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000453:epidemiology; D035583:Rare Diseases / Q000175:diagnosis* / Q000453:epidemiology*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000453:epidemiology; D011795:Surveys and Questionnaires; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000453:epidemiology; D018980:Williams Syndrome / Q000175:diagnosis / Q000453:epidemiology; D055815:Young Adult