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Impact of Genetic Testing Among Patients With Familial Hypercholesterolemia on Adverse Cardiovascular Events　- The

Hayato Tada1, Yasuaki Takeji1, Chiaki Goten1

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

Circulation Journal : Official Journal of the Japanese Circulation Society
|March 22, 2026
PubMed

Insights

Genetic testing for heterozygous familial hypercholesterolemia (HeFH) patients significantly reduced major adverse cardiovascular events (MACE). This finding was independent of LDL-C levels, suggesting genetic testing improves cardiovascular outcomes.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Clinical Research

Background:

  • Heterozygous familial hypercholesterolemia (HeFH) is a genetic condition leading to high cholesterol and increased cardiovascular risk.
  • Understanding the impact of genetic testing on cardiovascular outcomes in HeFH patients is crucial for clinical management.

Purpose of the Study:

  • To investigate the association between genetic testing and the occurrence of major adverse cardiovascular events (MACE) in patients with HeFH.
  • To determine if genetic testing influences cardiovascular risk independently of lipid levels.

Main Methods:

  • Analysis of data from the Hokuriku-plus FH Registry, including 386 patients with HeFH.
  • Utilizing Cox proportional hazards regression models to assess the risk of MACE in patients who underwent genetic testing versus those who did not.
  • Comparing low-density lipoprotein cholesterol (LDL-C) levels at follow-up between the two groups.

Main Results:

  • A total of 202 (52.3%) patients underwent genetic testing.
  • Patients who underwent genetic testing had significantly lower follow-up LDL-C levels (median 102 mg/dL vs. 130 mg/dL, P<0.001).
  • Genetic testing was significantly associated with a reduced risk of MACE (HR 0.66; P=0.033), even after adjusting for LDL-C.

Conclusions:

  • Genetic testing in HeFH patients is linked to a decreased risk of MACE, independent of LDL-C control.
  • Further randomized controlled trials are warranted to confirm the causal relationship between genetic testing and MACE reduction in HeFH.
Abstract

Keywords:
Cardiovascular riskFamilial hypercholesterolemiaGenetic testingLow-density lipoprotein receptorProprotein convertase subtilisin/kexin type 9 (PCSK9)

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