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Impact of Genetic Testing and Sex Differences among Patients with Familial Hypercholesterolemia: The Hokuriku-plus

Hayato Tada1, Hirofumi Okada1, Shohei Yoshida1

  • 1Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences.

Journal of Atherosclerosis and Thrombosis
|January 5, 2025
PubMed

Insights

Male sex and genetic testing are associated with achieving low-density lipoprotein (LDL)-cholesterol treatment targets in heterozygous familial hypercholesterolemia (HeFH). Female patients and those without genetic testing were less likely to reach LDL-cholesterol goals.

Area of Science:

  • Cardiology
  • Genetics
  • Public Health

Background:

  • Heterozygous familial hypercholesterolemia (HeFH) is a genetic disorder characterized by high LDL-cholesterol levels.
  • Effective management of HeFH is crucial to reduce cardiovascular risk.
  • Treatment target attainment for LDL-cholesterol is a key metric in managing HeFH.

Purpose of the Study:

  • To determine the factors associated with achieving LDL-cholesterol treatment targets in patients with HeFH.
  • To investigate the influence of sex and genetic testing on LDL-cholesterol goal attainment.

Main Methods:

  • A prospective, observational, multicenter cohort study (Hokuriku-plus FH registry) was conducted in Japan.
  • Data from 386 patients with HeFH were analyzed using logistic regression.
  • Factors associated with LDL-cholesterol treatment target attainment were assessed.

Main Results:

  • Male sex (OR = 2.16) and genetic testing (OR = 1.68) were significantly associated with achieving LDL-cholesterol treatment targets.
  • Female patients (24.0%) were less likely to attain targets compared to males (38.1%).
  • Patients without genetic testing (24.5%) were less likely to attain targets compared to those with testing (37.1%).

Conclusions:

  • Sex bias and lack of genetic testing represent significant barriers in managing HeFH patients.
  • These factors may contribute to disparities in achieving LDL-cholesterol treatment goals.
  • Addressing these barriers is essential for improving clinical outcomes in HeFH.
Abstract

Keywords:
Cardiovascular riskFamilial hypercholesterolemiaGenetic testingLDL receptorPCSK9

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