Language

English

Publication Date

1-1-2025

Journal

Journal of Clinical Lipidology

DOI

10.1016/j.jacl.2025.08.011

PMID

40973548

Abstract

Introduction: Pretreatment levels of low-density lipoprotein cholesterol (LDL-C) are a primary consideration for the clinical diagnosis of homozygous familial hypercholesterolemia (HoFH). However, determination of pretreatment LDL-C can be challenging in this population because many individuals begin lipid-lowering therapy (LLT) early in life before diagnosis of HoFH.

Methods: A previously developed simulation model was adapted to estimate pretreatment LDL-C in people living with HoFH, based on their treated LDL-C value and current LLT (statin, ezetimibe, alirocumab, evolocumab, and/or lipoprotein apheresis).

Results: The tool includes an interface for users to provide relevant details for estimating non-clinical pretreatment LDL-C, specifically for patients suspected of having HoFH.

Conclusion: This HoFH-specific calculator is provided as a supplemental tool to facilitate education about and awareness of the potential of having HoFH, which may lead to reduced time to appropriate treatments for people living with HoFH and, ultimately, optimize their outcomes.

Keywords

Humans, Hyperlipoproteinemia Type II, Cholesterol, LDL, Homozygote, Computer Simulation, Female, Male, Anticholesteremic Agents, Diagnosis, Homozygous familial hypercholesterolemia, Lipid-lowering therapy, Low-density lipoprotein, Statistical modeling

Published Open-Access

yes

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