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

J Clin Lipidol. 2017 May-Jun;11(3):704-711.e2. doi: 10.1016/j.jacl.2017.03.016. Epub 2017 Apr 4.

Abstract

Background: The identification of high-risk patients with heterozygous familial hypercholesterolemia (HeFH) that may benefit from early treatment is challenging. Coronary Artery Calcification (CAC) score accounts for coronary atherosclerotic burden. It has proven its accuracy in cardiovascular risk assessment in the general population but data in HeFH are lacking.

Objective: The aim of our study was to assess CAC prevalence and its relationship with lifelong cholesterol exposure, calculated by total cholesterol burden (TCB) in patients with HeFH.

Methods: A total of 112 HeFH patients (50% males, median age 45 years) regularly followed-up since diagnosis were prospectively recruited at Pitié-Salpêtrière Hospital, Paris, France. CAC score was assessed using noncontrast multi-detector computed tomography. TCB was calculated as total cholesterol (TC) × age at diagnosis plus annually assessed TC.

Results: The prevalence of CAC was 58%. Patients without CAC showed lower TCB than patients with CAC (298 ± 110 vs 417.9 ± 89 mmol-years/L, P < .001). Among patients aged <45 years (n = 56), 39% exhibited CAC and a higher TCB compared with patients without CAC (352 ± 71 vs 255 ± 88 mmol-years/L, P < .001) due to higher TC levels at diagnosis (10.2 ± 2 vs 8.7 ± 2 mmol/L, P = .01). Multivariate analysis indicated that TCB was independently associated to CAC.

Conclusions: Asymptomatic HeFH subjects exhibit early coronary atherosclerosis directly associated with TCB burden. CAC score may be useful to identify higher risk HeFH patients who can benefit from earlier and more aggressive treatment.

Keywords: Calcium score; Cardiovascular disease prevention; Cholesterol burden; Coronary artery calcification; Familial hypercholesterolemia.

MeSH terms

  • Adult
  • Calcinosis / complications*
  • Cholesterol / metabolism*
  • Coronary Artery Disease / complications*
  • Female
  • Heterozygote*
  • Humans
  • Hyperlipoproteinemia Type II / complications*
  • Hyperlipoproteinemia Type II / genetics
  • Hyperlipoproteinemia Type II / metabolism*
  • Male
  • Middle Aged
  • Young Adult

Substances

  • Cholesterol