Editorial
From Risk to Resilience: Transforming Perinatal Management for Women with FH
2025 Volume 32 Issue 12 Pages 1484-1485
Details
2025 Volume 32 Issue 12 Pages 1484-1485
See article vol. 32: 1523-1535
Familial hypercholesterolemia (FH) is a common autosomal dominant disorder characterized by lifelong elevation of LDL cholesterol and a markedly increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Although approximately half of FH patients are women, perinatal management of this population remains underdeveloped and often overlooked. The necessity to discontinue statins and most other lipid-lowering therapies during pregnancy and breastfeeding creates prolonged treatment interruptions, which may increase cumulative cholesterol burden and compromise long-term outcomes1, 2). Life expectancy in developed countries, particularly in Japan, is projected to continue increasing. However, in modern Japan, female FH patients face a disadvantage in terms of preventing atherosclerosis unless they are diagnosed early and receive appropriate treatment, due to the Westernization of their diets.
In this issue, Egawa et al. provide essential insights into the current state of FH management among women of childbearing potential in Japan3). Their nationwide survey revealed that 64% of physicians reported difficulties in treating pregnant women with FH, most commonly due to uncertainty in treatment selection and lack of established guidelines. Coordination with obstetricians was limited; only a small fraction of physicians referred patients before conception. From the patient perspective, more than half of women reported prolonged therapy interruptions, with a median duration of 17 months, and many experienced inadequate counseling regarding pregnancy and breastfeeding. Emotional stress was prevalent, reflecting a gap between patient needs and physician practice. These findings underscore the reality that many clinicians lack confidence in providing comprehensive perinatal care for women with FH.
To close this gap, we must move toward a more structured and collaborative approach4, 5). Joint guidelines developed by cardiologists, lipidologists, and obstetricians are urgently needed to provide precise algorithms for care before, during, and after pregnancy. Cardio-obstetrics pathways and systematic referral networks can ensure that women with FH receive timely multidisciplinary support. Preconception counseling should become routine, not optional, and should include discussion of medication discontinuation, genetic implications, and alternative therapies such as lipoprotein apheresis for high-risk patients. Postpartum care requires equally close attention, including early reassessment of cardiovascular status, careful timing of breastfeeding cessation, and prompt resumption of lipid-lowering therapy.
From a practical clinical standpoint, I have found it helpful to divide the management of women with FH into three distinct stages (Table 1). Before pregnancy, careful counseling is paramount. Physicians should stress the importance of planned conception, discuss discontinuation of contraindicated agents such as statins, and assess cardiovascular risk using echocardiography, carotid ultrasound, and, in selected cases, coronary CT angiography. Genetic counseling regarding the heritability of FH should also be offered. During pregnancy, lipid metabolism and hemodynamic changes increase maternal risk, yet almost all pharmacologic lipid-lowering options are contraindicated. In severe cases, especially homozygous FH or heterozygous FH with established ASCVD, lipoprotein apheresis remains the only effective and safe intervention6). Continuous monitoring of maternal cardiovascular function throughout gestation is essential. After delivery, clinicians should re-evaluate atherosclerotic progression, provide counseling regarding breastfeeding and timing of treatment resumption, and arrange LDL cholesterol screening for the infant at an appropriate age. Future pregnancy planning should also be revisited at this stage.
| Pre-Pregnancy | During Pregnancy | Postpartum |
|---|---|---|
| Counsel on the importance of a planned pregnancy | Monitor lipid metabolism and hemodynamic changes | Reassess atherosclerosis progression (labs, imaging) |
| Discontinue statins, ezetimibe, and PCSK9 inhibitors before conception | Avoid all contraindicated lipid-lowering drugs (e.g., statins) | Discuss breastfeeding and the timing of restarting therapy |
| Consider cycle-based temporary statin use in very high-risk cases | Initiate/continue lipoprotein apheresis if indicated (HoFH, severe HeFH with ASCVD) |
Plan future pregnancies and contraceptive options |
|
Evaluate cardiovascular status (echocardiography, carotid ultrasonography,±coronary CT if high risk) |
Regular maternal cardiovascular monitoring (echocardiography, blood pressure, symptoms) |
Arrange LDL-C screening for the child at the appropriate age |
| Offer genetic counseling on FH inheritance | Coordinate multidisciplinary care (obstetrics, cardiology, lipidology) |
Provide long-term follow-up for maternal cardiovascular risk |
PCSK9, proprotein convertase subtilisin/kexin type 9; HoFH, homozygous familial hypercholesterolemia; HeFH, heterozygous familial hypercholesterolemia; ASCVD, atherosclerotic cardiovascular disease; CT, computed tomography; LDL-C, low-density lipoprotein cholesterol
The study by Egawa et al. highlights an urgent and unmet need3). While the prevalence of FH is high and half of the patients are women, many physicians still feel unprepared to provide optimal care during the reproductive years. The consequences of inaction are significant, as treatment gaps during pregnancy and lactation may accelerate ASCVD risk for women already burdened by lifelong hypercholesterolemia. Moving forward, structured clinical pathways, enhanced interdisciplinary collaboration, and proactive patient-centered counseling can bridge this gap. Ultimately, empowering women with FH to make informed reproductive choices, while minimizing cardiovascular risk, should become a priority of modern lipidology and cardio-obstetric practice.
Masatsune Ogura received lecture fees from Amgen, Ultragenyx Japan, and Kowa.
This work is supported by a Labor and Welfare Sciences Research Grant for Research on Rare and Intractable Diseases (24FC1012)
