Maternal Heterozygous Familial Hypercholesterolemia and Its Consequences for Mother and Child

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During a normal pregnancy serum lipids (total, low-density lipoprotein [LDL]-cholesterol and high-density lipoprotein cholesterol, and triglycerides) rise steadily1 and take months to fall postpartum.2 LDL-cholesterol can increase by ≈66% and triglycerides can rise 3-fold, and it has been suggested that elevated cholesterol during pregnancy may be associated with spontaneous preterm delivery.3 Article see p 1606 It is known that women with heterozygous familial hypercholesterolemia (FH) who become pregnant have very high levels of LDL-cholesterol early in pregnancy (260 mg/dL or 6.7 mmol/L) that rise to even higher levels near term (330 mg/dL or 8.6 mmol/L).4 These very high lipid levels raise the question of the potential risks of pregnancy to the mother and fetus. FH is caused by mutations in the low-density lipoprotein receptor. In this issue of Circulation , in a study linking the Medical Birth Registry of Norway (1967–2006) and the Medical Genetics Laboratory at Oslo University Hospital that has established the molecular diagnosis in 4400 patients, 2319 births of 1093 women were identified.5 The serum levels of cholesterol in the nonpregnant, nontreated FH women were 370 mg/dL (9.59 mmol/L). In this study, no maternal cardiovascular deaths were observed. In addition, the children of mothers with FH were no more likely than the general population to be born prematurely, have low birth weight, or have congenital malformations. Furthermore, even though the sample size was small, no congenital malformations were observed in the 19 pregnancies associated with the use of lipid-lowering drugs during pregnancy. Although this is a retrospective, registry-based study, the data likely reflect the birth outcomes of a representative cohort of childbearing FH …