ABSTRACT Background and Aims: Familial hypercholesterolemia (FH) is a common genetic disorder. The prevalence of FH in premature coronary artery disease (CAD) in Sri Lanka was unknown before this study. Materials and Methods: A cross-sectional study was conducted in 602 individuals aged 18–60 years with CAD. FH was diagnosed using the Dutch Lipid Clinic Network (DLCN) score. Results: The prevalence of definite FH was 0.67% (95% confidence interval CI: 0.18–1.7), with probable FH of 4.1% (95% CI: 2.7–6.1) and possible FH of 18.4% (95% CI: 15.4–21.7). The mean age at onset of early-onset CAD was 48.3 years (standard deviation SD = 6.9). The mean low-density lipoprotein cholesterol (LDL-C) levels were highest in the probable and definite FH groups: 260.5 mg/dL (SD = 39.2) and 420.7 mg/dL (SD = 129.3), respectively. The prevalence of diabetes and obesity was similar in patients with and without FH. Among those not on statins ( n = 352), the mean LDL-C was 118.6 mg/dL (SD = 23.9 mg/dL). Among the 250 patients on statins, the target LDL-C level of <55 mg/dL was achieved by 34 (13.6%), whereas among the total population, it was 5.6%. The mean LDL-C level of patients receiving statins was 76.7 mg/dL. Among the correlations for the probability of having FH, a first-degree relative with premature coronary and vascular diseases had a strong correlation (Cramér’s V = 0.7). In the multivariate logistic regression analysis, higher LDL-C levels were significantly associated with probable/definite FH, with each 1 mg/dL increase in LDL-C corresponding to 8% higher odds of FH (odds ratio = 1.08 95% CI: 1.05–1.11; P = 0.001). Conclusions: FH is relatively common in patients with premature CAD. These results highlight the need to promote FH identification in patients with premature CAD.
Matthias et al. (Tue,) studied this question.