Evidence map›Paper›PMID 39131706›Full record

ArticleFrontiers in cardiovascular medicine2024

Genetic testing for familial hypercholesterolemia in a Finnish cohort of patients with premature coronary artery disease and elevated LDL-C levels.

Antti Jokiniitty, Markku Eskola, Saara Metso, Martin Bogsrud, Heini Huhtala, Tanja Saarela

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Article in Frontiers in cardiovascular medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Antti JokiniittyFaculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Markku EskolaFaculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Saara MetsoFaculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Martin BogsrudUnit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Heini HuhtalaFaculty of Social Sciences, Tampere University, Tampere, Finland.
Tanja SaarelaFaculty of Medicine and Health Technology, Tampere University, Tampere, Finland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Based on Finnish Objective: To assess the prevalence of monogenic FH in a Finnish cohort of patients with premature CAD and elevated low-density lipoprotein cholesterol (LDL-C) levels. Methods: Among 28,295 patients undergoing angiography at Heart Hospital at Tampere University Hospital between 2007 and 2017, we identified 162 patients diagnosed with premature CAD (men aged <55 years and women aged <60 years) and history of high LDL-C (≥5 mmol/L) levels without secondary causes of hypercholesterolemia. Clinical probability of FH was estimated, and genetic testing of FH was carried out in 80 patients with informed consent. Results: Of the 80 patients with premature CAD and history of high LDL-C levels, 70% were men; the age at diagnosis of CAD for male and female patients was 48 and 53 years, respectively. In total, 58 (73%) patients had probable ( Conclusions: The prevalence of genetically verified FH was 1:16 among patients with premature CAD and elevated LDL-C level, which is 38 times higher than the estimated prevalence of 1:600 in the general Finnish population.

Indexed as

coronary artery diseasefamilial hypercholesterolemiagenetic testinghyperlipidemiascreening

Identifiers

PMID39131706
PMCPMC11310056

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