Matches in SemOpenAlex for { <https://semopenalex.org/work/W1588157873> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W1588157873 abstract "Background: Heterozygous familial hypercholesterolemia (HeFH) is the most common dominantly-inherited disorder in man, affecting between 1:250 and 1:300 persons worldwide and estimates of more than 3 million with HeFH in the USA and Europe alone. Diagnosis is usually made by clinical criteria and confirmed with genetic testing. Despite next-generation gene sequencing, a causative mutation cannot be identified in up to 20% of patients even with a clinical diagnosis of definite HeFH. Given the prevalence, clinical diagnostic criteria are important tools for detection and early treatment of HeFH patients, particularly for clinicians outside of referral centers. Methods: The RUTHERFORD-1 and -2 studies enrolled patients with a clinical and/or genetic diagnosis of HeFH. All consenting patients in this analysis underwent FH genotyping. We compare the accuracy of clinical and genetic diagnosis of HeFH. Results: Of the 416 patients enrolled who consented to genetic testing, 342 (82%) were found to have genetically-confirmed HeFH. Of these patients, 288 (84%) met the Simon Broome criteria for definite and 54 (16%) for probable HeFH; 250 (75%) met the MEDPED clinical criteria for 100%, and 301 (90%) the 80% likelihood for a diagnosis of HeFH (Table). Conclusion: Although the optimal method to diagnose HeFH remains unclear, from these two trials there was close agreement between the two clinical classifications and genetic criteria. There were only a relatively small number of patients in whom genetic testing could not confirm the clinical diagnosis. Clinical criteria offer an inexpensive, low-technology ability for widespread screening in patients suspected of having HeFH. The advantage of genetic testing is that it allows for cascade testing of family members for the identified mutation who may not fulfill clinical criteria for the diagnosis of HeFH and application of family-oriented preventive strategies." @default.
- W1588157873 created "2016-06-24" @default.
- W1588157873 creator A5004099465 @default.
- W1588157873 creator A5004521406 @default.
- W1588157873 creator A5020693718 @default.
- W1588157873 creator A5022102417 @default.
- W1588157873 creator A5025538949 @default.
- W1588157873 creator A5044425699 @default.
- W1588157873 creator A5049272753 @default.
- W1588157873 creator A5049941770 @default.
- W1588157873 creator A5086317157 @default.
- W1588157873 creator A5090781778 @default.
- W1588157873 date "2014-11-25" @default.
- W1588157873 modified "2023-10-03" @default.
- W1588157873 title "Abstract 17368: The Diagnosis of Heterozygous Familial Hypercholesterolemia: Genotype versus Phenotype" @default.
- W1588157873 doi "https://doi.org/10.1161/circ.130.suppl_2.17368" @default.
- W1588157873 hasPublicationYear "2014" @default.
- W1588157873 type Work @default.
- W1588157873 sameAs 1588157873 @default.
- W1588157873 citedByCount "0" @default.
- W1588157873 crossrefType "journal-article" @default.
- W1588157873 hasAuthorship W1588157873A5004099465 @default.
- W1588157873 hasAuthorship W1588157873A5004521406 @default.
- W1588157873 hasAuthorship W1588157873A5020693718 @default.
- W1588157873 hasAuthorship W1588157873A5022102417 @default.
- W1588157873 hasAuthorship W1588157873A5025538949 @default.
- W1588157873 hasAuthorship W1588157873A5044425699 @default.
- W1588157873 hasAuthorship W1588157873A5049272753 @default.
- W1588157873 hasAuthorship W1588157873A5049941770 @default.
- W1588157873 hasAuthorship W1588157873A5086317157 @default.
- W1588157873 hasAuthorship W1588157873A5090781778 @default.
- W1588157873 hasConcept C104317684 @default.
- W1588157873 hasConcept C126322002 @default.
- W1588157873 hasConcept C135763542 @default.
- W1588157873 hasConcept C187212893 @default.
- W1588157873 hasConcept C2778163477 @default.
- W1588157873 hasConcept C2779120738 @default.
- W1588157873 hasConcept C2780673598 @default.
- W1588157873 hasConcept C2993153387 @default.
- W1588157873 hasConcept C31467283 @default.
- W1588157873 hasConcept C54355233 @default.
- W1588157873 hasConcept C71924100 @default.
- W1588157873 hasConcept C86803240 @default.
- W1588157873 hasConceptScore W1588157873C104317684 @default.
- W1588157873 hasConceptScore W1588157873C126322002 @default.
- W1588157873 hasConceptScore W1588157873C135763542 @default.
- W1588157873 hasConceptScore W1588157873C187212893 @default.
- W1588157873 hasConceptScore W1588157873C2778163477 @default.
- W1588157873 hasConceptScore W1588157873C2779120738 @default.
- W1588157873 hasConceptScore W1588157873C2780673598 @default.
- W1588157873 hasConceptScore W1588157873C2993153387 @default.
- W1588157873 hasConceptScore W1588157873C31467283 @default.
- W1588157873 hasConceptScore W1588157873C54355233 @default.
- W1588157873 hasConceptScore W1588157873C71924100 @default.
- W1588157873 hasConceptScore W1588157873C86803240 @default.
- W1588157873 hasLocation W15881578731 @default.
- W1588157873 hasOpenAccess W1588157873 @default.
- W1588157873 hasPrimaryLocation W15881578731 @default.
- W1588157873 hasRelatedWork W1963581957 @default.
- W1588157873 hasRelatedWork W1988687156 @default.
- W1588157873 hasRelatedWork W2074472861 @default.
- W1588157873 hasRelatedWork W2441011223 @default.
- W1588157873 hasRelatedWork W2462158264 @default.
- W1588157873 hasRelatedWork W2515284433 @default.
- W1588157873 hasRelatedWork W2540007944 @default.
- W1588157873 hasRelatedWork W2612312616 @default.
- W1588157873 hasRelatedWork W2791464051 @default.
- W1588157873 hasRelatedWork W2888676176 @default.
- W1588157873 hasRelatedWork W2891751509 @default.
- W1588157873 hasRelatedWork W2894066152 @default.
- W1588157873 hasRelatedWork W2942553675 @default.
- W1588157873 hasRelatedWork W3009084135 @default.
- W1588157873 hasRelatedWork W3112801104 @default.
- W1588157873 hasRelatedWork W3159291618 @default.
- W1588157873 hasRelatedWork W3170428065 @default.
- W1588157873 hasRelatedWork W3180473774 @default.
- W1588157873 hasRelatedWork W3201701186 @default.
- W1588157873 hasRelatedWork W37706601 @default.
- W1588157873 isParatext "false" @default.
- W1588157873 isRetracted "false" @default.
- W1588157873 magId "1588157873" @default.
- W1588157873 workType "article" @default.