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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.
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| http://dx.doi.org/10.1016/j.atherosclerosis.2025.119187 | DOI Listing |
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