Early coronary calcifications are related to cholesterol burden in heterozygous familial hypercholesterolemia

Antonio Gallo1, Philippe Giral2, Alain Carrié3

  • 1Unité de Prévention Cardiovasculaire, Service d'Endocrinologie-Métabolisme, Assistance Publique/Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière - Université Pierre et Marie Curie, Paris, France; Sorbonne Universités, UPMC Université Paris 06, INSERM 1146, CNRS 7371, Laboratoire d'imagerie Biomédicale, Paris, France; Atherosclerosis Research Unit, Diabetes and Cardiovascular Prevention Unit, Department of Internal Medicine and Medical Specialties, Policlinico Umberto I, "Sapienza" University of Rome, Rome, Italy.

Insights

High cholesterol exposure in familial hypercholesterolemia patients is linked to early coronary artery calcification (CAC). CAC scoring can help identify those needing earlier, aggressive treatment for better cardiovascular outcomes.

Area of Science:

  • Cardiology
  • Genetics
  • Radiology

Background:

  • Identifying high-risk patients with heterozygous familial hypercholesterolemia (HeFH) for early intervention is challenging.
  • Coronary Artery Calcification (CAC) score assesses coronary atherosclerotic burden and is validated for cardiovascular risk in the general population, but data in HeFH patients are limited.

Purpose of the Study:

  • To evaluate the prevalence of CAC in HeFH patients.
  • To investigate the relationship between CAC and lifelong cholesterol exposure, quantified by total cholesterol burden (TCB).

Main Methods:

  • 112 HeFH patients were prospectively recruited.
  • CAC score was determined using noncontrast multi-detector computed tomography.
  • TCB was calculated using a formula incorporating total cholesterol levels and age at diagnosis and annually thereafter.

Main Results:

  • A 58% prevalence of CAC was observed in the HeFH cohort.
  • Patients with CAC had significantly higher TCB compared to those without (417.9 ± 89 vs. 298 ± 110 mmol-years/L, P < .001).
  • Even in patients under 45 years old, 39% showed CAC, associated with higher TCB and initial total cholesterol levels.

Conclusions:

  • Asymptomatic HeFH patients demonstrate early coronary atherosclerosis directly correlated with TCB.
  • CAC scoring may serve as a valuable tool for identifying high-risk HeFH individuals who would benefit from earlier and more intensive treatment strategies.
Abstract

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