The place of a tertiary laboratory in an opportunistic screening for familial hypercholesterolemia.

Abstract

Background: Familial hypercholesterolemia (FH) is a common hereditary lipid disorder associated with high risk of cardiovascular disease. Emerging evidence suggests, FH is often both underdiagnosed and undertreated by health care providers. The prevalence of identified FH in a tertiary laboratory was assessed in this study. Method(s): We reviewed serum LDL-C level measured by a tertiary laboratory in Melbourne Australia over a six months period (July to December 2016). The prevalence of possible FHbasedonrecommendedLDL-Cthresholdsof5mmol/Las employed by the Dutch Lipid Clinic Network (DLCN) score was evaluated. Result(s): 4943 individuals had serum LDL-C assessment within this period, 106 patients; male/female ratio of 46/60 and mean age of 56, had LDL cholesterol of >= 5mmol/L after exclusion of five patients (0.1%) with secondary causes. Despite a poor documentation of family history and physical examination, 1.8% had DLCNS of 3-5, 0.3% a score of 6-8 and 0.1% a score of >8 indicating a possible, probable and definite diagnosis of FH respectively. The cumulative prevalence of likely phenotypical FH based on an LDL-C >=5.0mmol/L was 2.1% (1: 50). General practitioners referred 37.1% of the total patients followed by cardiologists and endocrinologists equally 12.2% and remaining 38.5% by other specialists. Conclusion(s): This study highlights the potential role of a tertiary laboratory in an opportunistic screening for index cases of FH. These data support the benefit of establishing an efficient "alert system" along with a trigger "reflex testing" to facilitate screening and ensuring further referral to a lipid disorder specialist.