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ORIGINAL RESEARCH article

Front. Cardiovasc. Med.
Sec. Lipids in Cardiovascular Disease
Volume 11 - 2024 | doi: 10.3389/fcvm.2024.1433042

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

Provisionally accepted
Antti T. Jokiniitty Antti T. Jokiniitty 1,2*Markku Eskola Markku Eskola 2Martin Bogsrud Martin Bogsrud 3Saara Metso Saara Metso 1,2Heini Huhtala Heini Huhtala 4Tanja Saarela Tanja Saarela 2
  • 1 Tampere University Hospital, Tampere, Finland
  • 2 Tampere University, Tampere, Pirkanmaa, Finland
  • 3 Oslo University Hospital, Oslo, Nordland, Norway
  • 4 Unit of Computing Sciences, Faculty of Information Technology and Communication Sciences, Tampere University of Applied Sciences, Tampere, Pirkanmaa, Finland

The final, formatted version of the article will be published soon.

    Based on Finnish LDLR-founder variations the prevalence of Familial Hypercholesterolemia (FH) in Finland is estimated to be at least 1:600. Patients with FH have increased risk of premature coronary artery disease (CAD) and thus the prevalence of FH is expected to be higher in this subgroup.To assess the prevalence of monogenic FH in a Finnish cohort of patients with premature CAD and elevated LDL-C levels.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 < 55 years and women < 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.Of the 80 patients with premature CAD and history of high LDL-C levels, 70% were male, age at diagnosis of CAD for male and female were 48 and 53 years, respectively. Fifty-eight patients (73%) had probable (n=54), or definite (n=4) FH based on DLCN criteria. Pathogenic variant of FH was found in five (6%) patients. Prevalence of the genetically verified FH was 1:16. FH variant was found in 75% of the patients with definite FH.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.

    Keywords: Familial Hypercholesterolemia, Genetic Testing, Coronary Artery Disease, screening, Hyperlipidemia

    Received: 15 May 2024; Accepted: 10 Jul 2024.

    Copyright: © 2024 Jokiniitty, Eskola, Bogsrud, Metso, Huhtala and Saarela. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Antti T. Jokiniitty, Tampere University Hospital, Tampere, Finland

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