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Observational Study
. 2025 May:404:119187.
doi: 10.1016/j.atherosclerosis.2025.119187. Epub 2025 Apr 3.

Real-world family planning and pregnancy practices in women with homozygous familial hypercholesterolemia

Janneke W C M Mulder  1 , Willemijn A M Schonck  2 , Tycho R Tromp  3 , M Doortje Reijman  4 , Laurens F Reeskamp  2 , G Kees Hovingh  5 , Dirk J Blom  6 , Jeanine E Roeters van Lennep  7
Affiliations
Free article
Observational Study

Real-world family planning and pregnancy practices in women with homozygous familial hypercholesterolemia

Janneke W C M Mulder et al. Atherosclerosis. 2025 May.
Free article

Abstract

Background and aims: Homozygous familial hypercholesterolemia (HoFH) is characterized by extremely high plasma low-density lipoprotein cholesterol (LDL-C) levels and high premature atherosclerotic cardiovascular disease risk. During pregnancy LDL-C levels increase, while limited therapeutic options are available. This international study documented current approaches of healthcare professionals (HCPs) to family planning, pregnancy, and breastfeeding in HoFH.

Methods: An online HCP survey was distributed among the HoFH International Clinical Collaborators (HICC, NCT04815005). Responses were analyzed according to HCPs' gender, medical specialty, country income status, and world region.

Results: In total, 87 HCPs (39.1 % women) from 48 countries participated (64.4 % practicing in high-income countries). Most HCPs (79.3 %) always discuss family planning with patients with HoFH. Most (72.4 %) recommend contraception, with intrauterine devices (50.8 %) and oral contraceptives (49.2 %) being most commonly recommended. One in three HCPs would advise against pregnancy if ASCVD risks were deemed too high. Except for lipoprotein apheresis and colesevelam, most HCPs would recommend discontinuing LLT during the conception, pregnancy, and breastfeeding periods. However, approximately 30 % advise continuation or reinitiation of statins and/or ezetimibe during pregnancy and breastfeeding despite labelled restrictions on use during pregnancy and breastfeeding. Nearly half (48.3 %) of HCPs would recommend that women with HoFH shorten the breastfeeding period to resume LLT earlier, with HCPs from high-income countries significantly more likely to do so (51.8 % vs. 41.9 %; p = 0.008).

Conclusions: This study highlights significant variability in the management of HoFH in women of childbearing age, especially concerning LLT use during conception, pregnancy, and breastfeeding. The findings underscore the need for further research to establish global evidence-based guidelines tailored to individual needs, to improve cardiovascular risk management and reproductive health outcomes for women with HoFH worldwide.

Keywords: Breastfeeding; Family planning; Homozygous familial hypercholesterolemia; Lipid-lowering therapy; Pregnancy.

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Conflict of interest statement

Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Dr Reeskamp is co-founder of Lipid Tools and reports lecture fees from Novartis, Ultragenyx, and Daiichi Sankyo. Dr Hovingh reports research grants from the Netherlands Organization for Scientific Research (vidi 016.156.445), CardioVascular Research Initiative, European Union and the Klinkerpad fonds, institutional research support from Aegerion, Amgen, AstraZeneca, Eli Lilly, Genzyme, Ionis, Kowa, Pfizer, Regeneron, Roche, Sanofi, and The Medicines Company; speaker's bureau and consulting fees from Amgen, Aegerion, Sanofi, and Regeneron until April 2019 (fees paid to the academic institution); GKH is part-time employment at Novo Nordisk and has stock in Novo Nordisk, Denmark. Dr Blom reports research grants from Amgen, Amryt, AstraZeneca, Sanofi, and Regeneron; lecture fees and personal fees from Amgen, Amryt, MSD, Sanofi-Aventis and Novartis; participation in advisory board for Amryt (Chair of the LOWER study steering committee); and being a member of the executive committee of the Lipid and Atherosclerosis Society of South Africa and the International Atherosclerosis Society. Dr Roeters van Lennep reports that a research grant from Novartis was received by the department. The other authors JM, WAMS, TT, and MDR do not have disclosures for this manuscript.

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