Familial hypercholesterolaemia: cholesterol efflux and coronary disease

Research output: Contribution to journalArticle


Background: Coronary heart disease (CHD) risk inversely associates with levels of high-density lipoprotein cholesterol (HDL-C). The protective effect of HDL is thought to depend on its functionality, such as its ability to induce cholesterol efflux. Materials and methods: We compared plasma cholesterol efflux capacity between male familial hypercholesterolaemia (FH) patients with and without CHD relative to their non-FH brothers, and examined HDL constituents including sphingosine-1-phosphate (S1P) and its carrier apolipoprotein M (apoM). Results: Seven FH patients were asymptomatic and six had experienced a cardiac event at a mean age of 39 years. Compared to their non-FH brothers, cholesterol efflux from macrophages to plasma from the FH patients without CHD was 16 ± 22% (mean ± SD) higher and to plasma from the FH patients with CHD was 7 ± 8% lower (P = 0·03, CHD vs. non-CHD). Compared to their non-FH brothers, FH patients without CHD displayed significantly higher levels of HDL-cholesterol, HDL-S1P and apoM, while FH patients with CHD displayed lower levels than their non-FH brothers. Conclusions: A higher plasma cholesterol efflux capacity and higher S1P and apoM content of HDL in asymptomatic FH patients may play a role in their apparent protection from premature CHD.


  • Jorie Versmissen
  • Ranitha Vongpromek
  • Reyhana Yahya
  • Jeroen B. van der Net
  • Leonie van Vark-van der Zee
  • Jeannette Blommesteijn-Touw
  • Darcos Wattimena
  • Trinet Rietveld
  • Clive R. Pullinger
  • Christina Christoffersen
  • Björn Dahlbäck
  • John P. Kane
  • Monique Mulder
  • Eric J G Sijbrands
External organisations
  • Erasmus University Medical Center
  • Copenhagen University Hospital
  • Skåne University Hospital
  • University of California, San Francisco
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cardiac and Cardiovascular Systems


  • Apolipoprotein M, cholesterol efflux, familial hypercholesterolaemia, high-density lipoprotein, sphingolipids, sphingosine-phosphate
Original languageEnglish
Pages (from-to)643-650
Number of pages8
JournalEuropean Journal of Clinical Investigation
Issue number7
Publication statusPublished - 2016 Jul 1
Publication categoryResearch