The tertiary hospital laboratory; a novel avenue of opportunistic screening of familial hypercholesterolemia

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Background: Familial hypercholesterolemia (FH) is a common monogenic hereditary lipid disorder characterised by increased serum low-density lipoprotein cholesterol (LDL-cholesterol) concentrations and high risk of premature atherosclerotic cardiovascular disease. The prevalence of FH identified in a tertiary hospital laboratory was investigated by performing an opportunistic screen for index cases. Methods: The prevalence of likely FH based on LDL-cholesterol thresholds >4.9 mmol/L as employed by the Dutch Lipid Clinic Network Criteria (DLCNC) score was evaluated retrospectively in a single tertiary hospital laboratory over a six-month period (July to December 2016). Results: 4943 lipid profiles screened, 106 patients (mean age 53.2 ± 12.9 and 41% male) had LDL-cholesterol of >4.9 mmol/L after exclusion of 5 patients (0.1%) with secondary causes. Possible (n = 90) and probable/definite (n = 16) FH according to DLCNC score was seen in 1.8% and 0.4% of the overall screened population, respectively. Conclusions: Point prevalence of screening for FH in patients undergoing lipid profile testing in a tertiary hospital laboratory was comparable with prevalence of FH in general population (based on 1 in 200–250). This supports the benefit of establishing an efficient “alert system” in conjunction with a trigger “reflex testing” to facilitate further formal FH scoring and exclusion of possible secondary causes of hyperlipidemia in potential index FH.

Original languageEnglish
Article number100354
Number of pages4
JournalInternational Journal of Cardiology - Heart and Vasculature
Publication statusPublished - 1 Jun 2019


  • Familial hypercholesterolemia
  • FH
  • Opportunistic screening
  • Tertiary hospital laboratory

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