Familial hypercholesterolemia in women: diagnosis, treatment, and cardiovascular outcomes across the lifespan
Author(s)
Karungi, Irene
Holven, Kirsten B
Ray, Kausik K
Elshorbagy, Amany
Type
Journal Article
Abstract
Purpose of Review
Familial hypercholesterolemia (FH) is a common monogenic lipid disorder, characterized by lifelong elevated low-density lipoprotein cholesterol (LDL-C) and a markedly increased risk of atherosclerotic cardiovascular disease (ASCVD). Although the genetic prevalence of FH does not differ between sexes, women with FH face unique challenges across their lifespan that contribute to their cardiovascular risk. This review synthesizes current evidence on the trajectory of FH in women, with a focus on disparities in diagnosis, treatment, and cardiovascular outcomes across the female lifespan.
Recent Findings
Current evidence highlights a substantial gender gap in FH care. Compared with men, women are typically diagnosed 3–7 years later, are 26% less likely to receive lipid-lowering therapy (LLT), and are 37% less likely to achieve guideline-recommended LDL-C targets. Childbearing years are a major vulnerable period, as LLT is usually interrupted during pre-conception, pregnancy, and lactation, resulting in a median loss of 2.3 years of statin-treatment per woman. These treatment-gaps contribute to a disproportionately greater cumulative LDL-C burden in younger women with FH than men. Although premenopausal women retain lower absolute ASCVD risk than men with FH, their excess risk relative to the general female population exceeds the corresponding male disadvantage, and both LDL-C and ASCVD risk rise further after menopause.
Summary
Women with FH face distinct diagnostic and therapeutic challenges requiring sex-specific care. Improving equity in FH care in women necessitates early diagnosis, appropriate LLT intensification, dedicated management across the childbearing years, and expanded research into LLT safety in pregnancy to reduce cumulative LDL-C exposure and long-term ASCVD burden.
Familial hypercholesterolemia (FH) is a common monogenic lipid disorder, characterized by lifelong elevated low-density lipoprotein cholesterol (LDL-C) and a markedly increased risk of atherosclerotic cardiovascular disease (ASCVD). Although the genetic prevalence of FH does not differ between sexes, women with FH face unique challenges across their lifespan that contribute to their cardiovascular risk. This review synthesizes current evidence on the trajectory of FH in women, with a focus on disparities in diagnosis, treatment, and cardiovascular outcomes across the female lifespan.
Recent Findings
Current evidence highlights a substantial gender gap in FH care. Compared with men, women are typically diagnosed 3–7 years later, are 26% less likely to receive lipid-lowering therapy (LLT), and are 37% less likely to achieve guideline-recommended LDL-C targets. Childbearing years are a major vulnerable period, as LLT is usually interrupted during pre-conception, pregnancy, and lactation, resulting in a median loss of 2.3 years of statin-treatment per woman. These treatment-gaps contribute to a disproportionately greater cumulative LDL-C burden in younger women with FH than men. Although premenopausal women retain lower absolute ASCVD risk than men with FH, their excess risk relative to the general female population exceeds the corresponding male disadvantage, and both LDL-C and ASCVD risk rise further after menopause.
Summary
Women with FH face distinct diagnostic and therapeutic challenges requiring sex-specific care. Improving equity in FH care in women necessitates early diagnosis, appropriate LLT intensification, dedicated management across the childbearing years, and expanded research into LLT safety in pregnancy to reduce cumulative LDL-C exposure and long-term ASCVD burden.
Date Issued
2026-06-08
Date Acceptance
2026-05-13
Citation
Current Atherosclerosis Reports, 2026, 28 (1)
ISSN
1523-3804
Publisher
Springer
Start Page
61
Journal / Book Title
Current Atherosclerosis Reports
Volume
28
Issue
1
Copyright Statement
© The Author(s) 2026. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/42258101
PII: 10.1007/s11883-026-01431-1
Subjects
Atherosclerotic cardiovascular disease
Familial hypercholesterolemia
Lipid lowering therapy
Low-density lipoprotein cholesterol
Pregnancy
Women
Humans
Female
Hyperlipoproteinemia Type II
Cholesterol, LDL
Cardiovascular Diseases
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Pregnancy
Anticholesteremic Agents
Heart Disease Risk Factors
Publication Status
Published
Coverage Spatial
United States
Article Number
61
Date Publish Online
2026-06-08