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

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.