A modified algorithm with lipoprotein(a) added for diagnosis of familial hypercholesterolemia.

ABSTRACT:

Background

Previous studies have observed that high level of lipoprotein (a) [Lp(a)] was common in the phenotypic familial hypercholesterolemia (FH) and may explain part of the clinical diagnosis of FH.

Hypothesis

We aim to develop a modified model including Lp(a) and compare its diagnostic performance with Dutch Lipid Clinic Network (DLCN) criteria.

Methods

Data of 10 449 individuals were utilized for the model establishment (7806 for derivation and 2643 for validation) from January 2011 to March 2018. The novel score model was modified on the basis of DLCN. Furthermore, 718 patients were screened for LDLR, APOB, and PCSK9 gene mutations.

Results

The novel modified model consisted of untreated low-density lipoprotein cholesterol (LDL-C) level, Lp(a), personal

SUBMITTER: Sun D 

PROVIDER: S-EPMC6788465 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature