Familial hypercholesterolemia in pregnancy.

Purpose of review: Individuals with familial hypercholesterolemia (FH), particularly those with homozygous FH (HoFH) who have markedly elevated LDL-cholesterol (LDL-C) levels from birth, present with unique complications during pregnancy. This review explores the complexities of FH care during pregnancy.

Recent findings: The worldwide burden of FH is much greater than previously thought. Still, underdiagnosis and undertreatment are substantial, necessitating increased awareness, genetic screening efforts, and better access to diagnostic tools. Although there is guidance for implementing best practices in the care of FH, including pregnancy, currently, there are no evidence-based guidelines that address HoFH at the time of pregnancy planning or during pregnancy and lactation.

Summary: FH management in pregnancy requires a reasonable balance between fetal safety and maternal LDL-C control. Discontinuing lipid-lowering medication during pregnancy and the postpartum period needs to be considered, and in severe cases, lipoprotein apheresis may be an appropriate substitute. Comprehensive patient care requires coordination by genetic counselors, cardiologists, lipidologists, and obstetricians. The management of HoFH in pregnancy requires further research efforts, enhancement of public knowledge, and worldwide cooperation. By focusing on these areas, we can make significant progress in diagnostics and develop efficient management plans for improving outcomes among pregnant women with HoFH.