Dilemmas in treatment of women with familial hypercholesterolaemia during pregnancy

Familial hypercholesterolaemia (FH) is a co-dominant monogenic disorder of lipoprotein metabolism, characterised by severely elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth onwards. Treatment of FH patients with cholesterol-lowering medication is mandatory to prevent premature cardiovascular disease (CVD). As a result of a nationwide screening in the Netherlands, a large group of women with FH in the child-bearing age range has been identified. Physicians are faced with a treatment dilemma if these females present either with a wish for pregnancy or an established pregnancy, since all systemically absorbed lipid-lowering medication is contraindicated during pregnancy. Currently, no evidence-based guidelines exist on the optimal clinical approach in these patients. Animal studies have shown conflicting data on potential teratogenicity of statins. In humans, there is no strong adverse safety signal, but prospective studies are lacking. The consequences of maternal hypercholesterolaemia during pregnancy for both mother and child are not well determined, although it has been suggested that it may increase the risk of CVD in the offspring. This review describes two representative cases from clinical practice, and discusses clinical considerations for treating pregnant FH patients supplemented with what is known from the literature