Incidence of cardiovascular disease in familial combined hyperlipidemia: A 15-year follow-up study

Jim Luijten, Marleen M. J. van Greevenbroek, Nicolaas C. Schaper, Steven J. R. Meex, Caroline van der Steen, Lisanne J. Meijer, Douwe de Boer, Jacqueline de Graaf, Coen D. A. Stehouwer, Martijn C. G. J. Brouwers*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

20 Citations (Web of Science)

Abstract

Background and aims: Familial combined hyperlipidemia (FCHL) is a complex dyslipidemia associated with premature cardiovascular disease (CVD). The present study was conducted to 1) determine the incidence of CVD in FCHL in this era of protocolled, primary prevention; and 2) examine whether cardiovascular risk estimation based on the Systemic Coronary Risk Estimation (SCORE) chart, as proposed in the 2016 ESC/EAS guidelines for the management of dyslipidemia, is justified in FCHL.

Methods: FCHL patients, their normolipidemic (NL) relatives and spouses originally included in our baseline cohort in 1998-2005 (n = 596) were invited for a follow-up visit to determine the incidence of CVD, defined as (non-) fatal coronary artery disease, ischemic stroke and peripheral artery disease requiring invasive treatment.

Results: Follow-up data (median: 15 years) was acquired for 85% of the original cohort. The cumulative incidence of CVD was significantly higher in FCHL patients than in spouses (23.6% versus 4.7%; hazard ratio (HR): 5.4, 95% CI: 2.0-14.6; HR after adjustment for risk factors included in SCORE: 4.7, 95% CI: 1.6-13.8), but not in NL relatives compared to spouses (5.8% versus 4.7%). The SCORE chart tended to overestimate CVD risk in the spouses (observed [O]/expected [E] ratio: 0.2, p = 0.01), but not in FCHL patients (O/E: 1.3, p = 0.50).

Conclusions: Risk of primary CVD is still substantially increased in FCHL patients, despite preventive measures. The overestimation of CVD risk by the SCORE chart -a nowadays frequently observed phenomenon thanks to improved primary prevention - was not seen in FCHL. These results suggest that more aggressive treatment is justified to avoid excessive CVD in FCHL.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalAtherosclerosis
Volume280
DOIs
Publication statusPublished - Jan 2019

Keywords

  • Familial combined hyperlipidemia
  • Prevention
  • Cardiovascular disease
  • Coronary artery disease
  • Epidemiology
  • Guideline
  • CORONARY-HEART-DISEASE
  • RISK SCORES
  • CHOLESTEROL
  • DIAGNOSIS
  • EXPRESSION
  • EUROPE

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