LIPOPROTEIN(A) ELEVATIONS COMMON, BUT NOT HIGHER IN GENOTYPE POSITIVE FAMILIAL HYPERCHOLESTEROLEMIA VERSUS GENOTYPE NEGATIVE INDIVIDUALS WITH HYPERLIPIDEMIA, IN PATIENTS REFERRED TO A DEDICATED CARDIOVASCULAR GENETIC COUNSELING CLINIC

Abstract

Therapeutic Area: ASCVD/CVD Risk Factors Background: Lipoprotein(a) [Lp(a)] is an apob100 containing lipoprotein with athero- and thrombogenic potential with a global population prevalence estimated at 20%. Previous research has presented conflicting data on whether individuals with genotype positive (Gene+) familial hypercholesterolemia (FH) are more likely to have elevated Lp(a) (≥50 mg/dL) vs genotype negative (Gene-) individuals. Methods: We performed a retrospective review of a 200 individual cohort of patients referred to be seen by the Intermountain Medical Center Cardiovascular Genetic Counseling clinic from 2018 to 2024 who had Lp(a) measurements (mg/dL) and underwent full gene sequencing and deletion/duplication analysis of the APOB, LDLR, LDLRAP1, and PCSK9 genes using next-generation sequencing technologies. The Lp(a) measurements were compared between 56 gene+ individuals and 144 gene- individuals. Results: Of the 56 gene+ individuals, 21 had an Lp(a) ≥50 mg/dL (37.5%). Of the 144 gene- individuals, 61 had an Lp(a) ≥50 mg/dL (42.4%). Using Pearson's Chi-Squared Test, we calculated the chi-square value of 0.53. Conclusions: The prevalence of elevated Lp(a) was nearly double (37.5% and 42.4%) than is estimated in the general population. However, the difference in proportion of patients with elevated Lp(a) between gene+ and gene- patients was not statistically significant. These findings reaffirm the importance of screening for elevated Lp(a) in all patients, regardless of genotype status.