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

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WOMEN AND ISCHEMIC HEART DISEASE (P. KOHLI, SECTION EDITOR)

Women Living with Familial Hypercholesterolemia: Challenges and Considerations Surrounding Their Care Sujana Balla 1,2 & Eson P. Ekpo 1 & Katherine A. Wilemon 3 & Joshua W. Knowles 3,4,5 & Fatima Rodriguez 1

# Springer Science+Business Media, LLC, part of Springer Nature 2020

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. Keywords Familial hypercholesterolemia . Women . Girls . Statins . LDL

Introduction This article is part of the Topical Collection on Women and Ischemic Heart Disease Sujana Balla and Eson P. Ekpo are co-first authors. Fatima Rodriguez and Joshua W. Knowles are joint senior authors. * Joshua W. Knowles [email protected] 1

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

2

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

3

The FH Foundation, Pasadena, CA, USA

4

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

5

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

When Katherine Wilemon experienced severe chest pain in her mid-thirties, as a young woman she did not expect to have heart disease, nor di