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Atherosclerosis. 2019 Jan;280:1-6. doi: 10.1016/j.atherosclerosis.2018.11.013. Epub 2018 Nov 8.

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

Author information

1
Department of Internal Medicine, Division of Endocrinology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Centre, P. Debyelaan 25, 6229 HX, Maastricht, the Netherlands.
2
Department of Internal Medicine, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Centre, P. Debyelaan 25, 6229 HX, Maastricht, the Netherlands.
3
Department of Internal Medicine, Division of Endocrinology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Centre, P. Debyelaan 25, 6229 HX, Maastricht, the Netherlands; Care and Public Health Research Institute (CAPHRI), Maastricht University, the Netherlands.
4
Central Diagnostic Laboratory, Maastricht University Medical Centre, Maastricht, the Netherlands.
5
Department of Internal Medicine, Radboud Institute for Health Sciences, Radboud University Medical Centre, PO Box 9101, 6500 HB, Nijmegen, the Netherlands.
6
Department of Internal Medicine, Division of Endocrinology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Centre, P. Debyelaan 25, 6229 HX, Maastricht, the Netherlands. Electronic address: Mcgj.brouwers@mumc.nl.

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.

KEYWORDS:

Cardiovascular disease; Coronary artery disease; Epidemiology; Familial combined hyperlipidemia; Guideline; Prevention

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