Enter Note
972-09 - NAVIGATING FAMILIAL HYPERCHOLESTEROLEMIA IN PREGNANCY
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Author Block: Cassandra Garraud, Joan E. Briller, Vicki L. Groo, University of Illinois Hospital, Chicago, IL, USA
Background: Familial Hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism due to LDL receptor (LDLR) gene mutations resulting in elevated low-density lipoprotein cholesterol (LDL-C).1 Management of this disorder poses challenges for clinicians treating women of childbearing age planning to conceive, currently pregnant, or postpartum due to the lack of sufficient data on the safety of lipid-lowering agents during pregnancy and breastfeeding.2
Case: A 32-year-old woman G1P1001 with history of FH, heterozygous for the LDLR variant deletion and elevated lipoprotein a presented to our cardiology clinic with plans to pursue in vitro fertilization. She had no prior cardiac events but had a history of elevated liver enzymes. Her LDL-C has been effectively managed with high intensity statin and ezetimibe which were discontinued during a prior pregnancy due to teratogenicity concerns. She inquired about continued statin therapy and potential impact on pregnancy.
Decision‐making: Historically, women with FH were counseled not to take statins due to concern for fetal malformations within first trimester. However, evidence for adverse effects was sparse. During pregnancy multiple pathways promote lipogenesis and cholesterol levels can increase 25-50%, even higher in FH. Recent cohort studies have not shown anomalies in those treated with hydrophilic statins and possible benefit in preeclampsia prevention, prompting the FDA to remove contraindication for use in selected patients in 2021.1 Other options for therapy during pregnancy include lifestyle, bile acid sequestrants, fenofibrates, omega-3 fatty acids, and mipomersen. Shared decision-making was performed including the patient, cardiology, and maternal fetal medicine. She opted for intensive lifestyle with monitoring during pregnancy and consideration of alternative treatment such as lipoprotein apheresis if indicated.
Conclusion: Women of childbearing age with FH benefit from multidisciplinary care and individualized preconception counseling. Further studies with large clinical trials are needed to provide definitive safety data on statins.