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Women Living with Familial Hypercholesterolemia: Challenges and Considerations Surrounding Their Care

  • Women and Ischemic Heart Disease (P. Kohli, Section Editor)
  • Published:
Current Atherosclerosis Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

To highlight the gender-based differences in presentation and disparities in care for women with familial hypercholesterolemia (FH).

Recent Findings

Women with FH experience specific barriers to care including underrepresentation in research, significant underappreciation of risk, and interrupted therapy during childbearing. National and international registry and clinical trial data show significant healthcare disparities for women with FH. Women with FH are less likely to be on guideline-recommended high-intensity statin medications and those placed on statins are more likely to discontinue them within their first year. Women with FH are also less likely to be on regimens including non-statin agents such as PCSK9 inhibitors. As a result, women with FH are less likely to achieve target low-density lipoprotein cholesterol (LDL-C) targets, even those with prior atherosclerotic cardiovascular disease (ASCVD).

Summary

FH is common, under-diagnosed, and under-treated. Disparities of care are more pronounced in women than men. Additionally, FH weighs differently on women throughout the course of their lives starting from choosing contraceptives as young girls along with lipid-lowering therapy, timing pregnancy, choosing breastfeeding or resumption of therapy, and finally deciding goals of care during menopause. Early identification and appropriate treatment prior to interruptions of therapy for childbearing can lead to marked reduction in morbidity and mortality. Women access care differently than men and increasing awareness among all providers, especially cardio-obstetricians, may improve diagnostic rates. Understanding the unique challenges women with FH face is crucial to close the gaps in care they experience.

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Funding

J. Knowles is funded by the National Institute of Health grants (NIH U41HG009649, NIDDK P30DK116074). F. Rodriguez was funded by a career development award from the National Heart, Lung, and Blood Institute (K01 HL 144607) and the American Heart Association/Robert Wood Johnson Harold Amos Medical Faculty Development Program.

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Author notes

  1. Sujana Balla and Eson P. Ekpo are co-first authors. Fatima Rodriguez and Joshua W. Knowles are joint senior authors.

Authors and Affiliations

  1. Division of Cardiovascular Medicine & Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA, USA

    Sujana Balla, Eson P. Ekpo & Fatima Rodriguez

  2. Department of Medicine, University of California San Francisco Fresno, Fresno, CA, USA

    Sujana Balla

  3. The FH Foundation, Pasadena, CA, USA

    Katherine A. Wilemon & Joshua W. Knowles

  4. Stanford Department of Medicine, Diabetes Research Center, Cardiovascular Institute, Stanford, CA, USA

    Joshua W. Knowles

  5. Cardiovascular Medicine, Stanford University, Falk CVRC, Room CV273, MC 5406 300 Pasteur Drive, Stanford, CA, 94305, USA

    Joshua W. Knowles

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Correspondence to Joshua W. Knowles.

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Fatima Rodriguez reports personal fees from HealthPals, personal fees from Janssen, The Medicines Company and personal fees from NovoNordisk outside the submitted work. Sujana Balla, Eson P. Ekpo, Katherine Wilemon, and Joshua W. Knowles declare no conflicts of interest relevant to this manuscript.

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Balla, S., Ekpo, E.P., Wilemon, K.A. et al. Women Living with Familial Hypercholesterolemia: Challenges and Considerations Surrounding Their Care. Curr Atheroscler Rep 22, 60 (2020). https://doi.org/10.1007/s11883-020-00881-5

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