Challenges in the care of women with familial hypercholesterolaemia during the reproductive period – current evidence and practical guidance

Women with familial hypercholesterolaemia (FH) accrue a high lifetime LDL-cholesterol (LDL-C) burden and face excess atherosclerotic cardiovascular disease risk that is amplified by prolonged off-statin periods related to family planning, pregnancy and breastfeeding. Current practice and guidance are fragmented, and many women experience long-treatment interruptions that increase the cumulative LDL-C exposure. This review provides a contemporary account of the extant evidence and offers practical, evidence-informed recommendations that focus primarily on women with FH; we address contraception, preconception assessment, management during pregnancy, breastfeeding duration, and timely postpartum reintroduction of lipid-lowering therapy (LLT). We emphasize individualized shared decision-making and multidisciplinary care involving lipidologists, obstetricians, genetic counsellors and other specialists; we also consider alternative options to reduce the risk of prolonged off-treatment periods. Recent regulatory and guideline changes that allow more flexible consideration of statin use in pregnancy for selected high-risk women highlight the need for clear guidance to minimize the cumulative LDL-C exposure, while respecting maternal-fetal safety. Priority actions include development of explicit family-planning and pregnancy guidance for women with FH and implementation strategies to embed these practices into routine care.