A ritka betegségek diagnosztikájának késedelme Európában és Magyarországon

Translated title of the contribution: Diagnostic delay of rare diseases in Europe and in Hungary

Anett Földvári, Ildikó Szy, János Sándor, Gábor Pogány, György Kosztolányi

Research output: Contribution to journalReview article

8 Citations (Scopus)

Abstract

The long diagnostic delay is a characteristic problem of rare disease patients. Aims: Diagnostic delay was studied in 14 countries by EurordisCare2 involving patient organizations. Methods: 252 Hungarian patients (cystic fi brosis; 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 fi brosis: 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 identifi ed areas require interventions, and it confi rmed the importance of centralized care.

Translated title of the contributionDiagnostic delay of rare diseases in Europe and in Hungary
Original languageHungarian
Pages (from-to)1185-1190
Number of pages6
JournalOrvosi hetilap
Volume153
Issue number30
DOIs
Publication statusPublished - Jul 1 2012

ASJC Scopus subject areas

  • Medicine(all)

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