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Lp(a)-derived cholesterol inflates LDL-C readings in 30-50% of familial hypercholesterolaemia patients, complicating diagnosis, a review (Curr Opin Lipidol 2020)
Original title: The interconnection between lipoprotein(a), lipoprotein(a) cholesterol and true LDL-cholesterol in the diagnosis of familial hypercholesterolemia
This review by Yeang, Willeit and Tsimikas examines how Lp(a), Lp(a)-cholesterol (Lp(a)-C), and true LDL cholesterol interrelate in diagnosing familial hypercholesterolaemia (FH). Elevated Lp(a) is present in 30-50% of FH patients and worsens their prognosis, but its role in FH diagnosis itself is less well established, largely because Lp(a)-C is automatically incorporated into standard clinical LDL-C measurements and can meaningfully inflate the cholesterol values used in most FH diagnostic algorithms. The authors argue that future studies accurately measuring true LDL-C, or using apoB-100 and Lp(a)-specific criteria, could overcome the limitations of estimated LDL-C for diagnosing FH in patients who also have elevated Lp(a).
Original abstract
Purpose Of Review: Elevated levels of lipoprotein(a) [Lp(a)] are present in 30-50% of patients with familial hypercholesterolemia. The contribution of Lp(a) towards risk stratification of patients with familial hypercholesterolemia has been recently recognized, with studies showing a significantly worse prognosis if Lp(a) is elevated. However, the role of elevated Lp(a) in diagnosis of familial hypercholesterolemia is less well defined or accepted.
Recent Findings: An important confounder in the diagnosis of familial hypercholesterolemia is the significant contribution of the cholesterol content on Lp(a) (Lp(a)-C) in individuals with elevated Lp(a). Because Lp(a)-C is incorporated into all clinical LDL-C measurements, it can contribute significantly to the cholesterol threshold diagnostic criteria for familial hypercholesterolemia used in most clinical algorithms.
Summary: In this review, we discuss the interrelationship of Lp(a), Lp(a)-C and correct LDL-C in the diagnosis and prognosis of familial hypercholesterolemia. Future studies of accurately measuring correct LDL-C or in using apoB-100 and Lp(a) criteria may overcome the limitations of using estimated LDL-C in the diagnosis of familial hypercholesterolemia in individuals with concomitant elevation of Lp(a).
familial hypercholesterolaemiatesting
Summary written by lp-a.org from the published abstract; figures as published. Page updated 18 August 2026. Methods.