Pregnancy Outcomes in Familial Hypercholesterolemia: A Registry-Based Study
Open accessAbstract
Background—: Women with familial hypercholesterolemia (FH) are prone to early cardiovascular disease and death. It is unknown whether FH adversely affects pregnant women and birth outcomes. We determined whether heterozygous FH women are at higher risk of premature birth (<37 gestational weeks), delivering children with low birth weight (<2500 g) and/or with congenital malformations compared to women in general. Methods and Results—: We linked information from the Medical Genetics Laboratory with that of the Medical Birth Registry of Norway. We included 1869 FH women (≥14 years) from the Medical Genetics Laboratory and about 2 million (general population) from the Medical Birth Registry of Norway during the period 1967 to 2006. The registry match resulted in analysis of 2319 births of 1093 women with heterozygous FH. The mean (SD) prepregnancy total cholesterol concentration was 9.59 (2.06) mmol/L (370 [80 mg/dL]), whereas the concentration of total cholesterol was not available during pregnancy. The frequencies of prematurity, low birth weight, and congenital malformations for the 40-year period in the FH population were 6.8, 5.0, and 3.3, respectively. The corresponding values for the general population were 6.2, 5.2, and 3.2. The corresponding odds ratios were 1.11 (95 confidence interval 0.94–1.31; P =0.23), 0.96 (0.79–1.15; P =0.64), and 1.09 (0.87–1.37; P =0.45). Conclusions—: Women with FH do not appear to have a higher risk of preterm delivery or of having infants with low birth weight or congenital malformations than women in general, but, although this is unlikely, some undetected bias may obscure the real differences.
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Statins did not increase teratogenic effects for individuals with familial hypercholesterolemia, and a meta-analysis of pravastatin in pregnant individuals showed a reduction in preeclampsia, premature birth, and neonatal intensive care unit admissions.
“Although the evidence is limited, statins did not increase teratogenic effects for individuals with familial hypercholesterolemia (147,148), and a meta-analysis of pravastatin in pregnant individuals showed a reduction in preeclampsia, premature birth, and neonatal intensive care unit admissions (149).”
From 10. Cardiovascular Disease and Risk Management: Standards of Care in Diabetes—2025 (2025) · cites this paper as [148]
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Experimental — accuracy not yet measuredStatins did not increase teratogenic effects for individuals with familial hypercholesterolemia.
“Although the evidence is limited, statins did not increase teratogenic effects for individuals with familial hypercholesterolemia (141,142), and a meta-analysis of pravastatin in pregnant individuals showed a reduction in preeclampsia, premature birth, and neonatal intensive care unit admissions (143).”
From 10. Cardiovascular Disease and Risk Management: Standards of Care in Diabetes—2026 (2026) · cites this paper as [142]
The Congenital Malformations section reports no significant change in malformation frequency among women with familial hypercholesterolemia before versus after statins were introduced, and no malformations among 19 women who took lipid-lowering drugs during pregnancy. The Prematurity, Drug Use, and Mutation Types section identifies 15 of those women as statin users. These limited observations do not establish that statin exposure itself did not increase teratogenic risk. (LLM, conf=0.82)
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- Authors
- Toleikyte, I., Retterstøl, K., Leren, T. P., & Iversen, P. O.
- Affiliations
- Oslo University Hospital (NO)
- Venue
- Circulation
- Published
- 2011-10-11
- Volume
- 124
- Issue
- 15
- Pages
- 1606-1614
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- OpenAlex
- W1989026300
- Cited by
- 112
- References
- 34
- Citations by year
- 2026: 3 · 2025: 6 · 2024: 10 · 2023: 8 · 2022: 9 · 2021: 12 · 2020: 6 · 2019: 7 · 2018: 8 · 2017: 4 · 2016: 9 · 2015: 11 · 2014: 3 · 2013: 4 · 2012: 11
- FWCI
- 6.18
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Circulation (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Obstetrics and Gynecology › Pregnancy and preeclampsia studies
- Keywords
- familial hypercholesterolemia, pregnancy outcomes, preterm birth, low birth weight, congenital malformations, heterozygous familial hypercholesterolemia, birth registry, cardiovascular risk in pregnancy
- MeSH terms
- Congenital Abnormalities, Adolescent, Adult, Birth Weight, Female, Heterozygote, Humans, Hyperlipoproteinemia Type II, Infant, Low Birth Weight, Infant, Newborn, Middle Aged, Mutation, Norway, Pregnancy, Pregnancy Complications, Cardiovascular, Pregnancy Outcome, Receptors, LDL, Registries, Incidence, Odds Ratio, Risk Assessment, Hydroxymethylglutaryl-CoA Reductase Inhibitors, Premature Birth, Young Adult
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