Triple Assessments of Atherosclerosis in Patients With Heterozygous Familial Hypercholesterolemia

Hayato Tada1, Nobuko Kojima1, Kan Yamagami1

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

JACC. Asia
|July 9, 2025
PubMed

Insights

Atherosclerosis develops early in heterozygous familial hypercholesterolemia (HeFH). Triple assessments of carotid plaque, coronary plaque, and coronary artery calcium (CAC) aid in early detection and risk stratification for cardiovascular events in HeFH patients.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Medical Imaging

Background:

  • Limited data exist on the timing and impact of atherosclerosis assessment in patients with heterozygous familial hypercholesterolemia (HeFH).
  • Understanding early atherosclerotic changes is crucial for timely intervention in HeFH.
  • HeFH is a genetic disorder characterized by high LDL cholesterol levels, predisposing individuals to premature cardiovascular disease.

Purpose of the Study:

  • To determine the age of onset for atherosclerotic changes in HeFH patients.
  • To evaluate the utility of triple assessments (carotid plaque, coronary plaque, coronary artery calcium) for risk stratification in HeFH.
  • To identify the relationship between age and atherosclerosis progression in HeFH.

Main Methods:

  • Retrospective review of 622 HeFH patients (primary prevention) from Kanazawa University Hospital (2000-2020).
  • Triple atherosclerosis assessment including carotid plaque, coronary plaque, and coronary artery calcium (CAC) scores.
  • Cox proportional hazard model used to determine risk factors for coronary heart disease events; regression analysis plotted plaque scores against age.

Main Results:

  • Age was independently associated with coronary heart disease events in HeFH patients.
  • Regression equations revealed significant associations between age and atherosclerosis burden (carotid plaque, coronary plaque, CAC) in both men and women.
  • Significant differences in cardiovascular events were observed based on atherosclerotic burden, highlighting the utility of triple assessments.

Conclusions:

  • Carotid plaque, coronary plaque, and CAC may develop as early as ages 17, 26, and 31 in males, and 30, 36, and 40 in females with HeFH, respectively.
  • Triple atherosclerosis assessments are valuable tools for risk stratification in HeFH patients.
  • Early and comprehensive atherosclerosis assessment is recommended for individuals with HeFH to guide preventative strategies.
Abstract

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