Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

doi:10.1038/s41431-019-0508-0

Paper

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Published Sep 16, 2019 · Stéphanie Nguengang Wakap, D. Lambert, A. Olry

European Journal of Human Genetics

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884

Citations

45

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Abstract

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Observational Study

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Study Snapshot

The global point prevalence of rare diseases is estimated to be 3.5-5.9%, affecting 263-446 million people worldwide, with 71.9% being genetic and 69.9% having pediatric onset.

PopulationOlder adults (50-71 years)

Sample size24

MethodsObservational

OutcomesBody Mass Index projections

ResultsSocial networks mitigate obesity in older groups.

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Paper

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

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References

The burden of rare diseases

Rare disease numbers are often misunderstood, leading to misconceptions about their burden and prevalence.

Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets

Rare diseases account for 1.5% of the Hong Kong population and 4.3% of total inpatient costs, highlighting their importance in healthcare policies.

The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition

ADPKD is a rare and underdiagnosed condition, with a predicted prevalence of 4.76:10,000 in the Italian province of Modena, compatible with the definition of rare disease adopted by the European Medicines Agency and Food and Drug Administration.

Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges

Lipodystrophy prevalence estimates are at the lower range of previously established numbers, confirming its ultra-rare status.

Defining rare diseases in China.

A list of rare diseases has been created in China, but consensus on a consensus-based definition is needed for effective healthcare policy-making.

Citations