A woman with homozygous familial hypercholesterolaemia requiring lipoprotein apheresis and coronary artery bypass graft in pregnancy.

Abstract

Homozygous familial hypercholesterolaemia (HoFH) is a rare condition characterised by markedly elevated low-density lipoprotein and early-onset atherosclerotic cardiovascular disease. Described here is a woman with HoFH and premature ischaemic heart disease who presented during her first pregnancy with poorly-controlled hyperlipidaemia. Despite ongoing treatment with lipid-lowering therapy and lipoprotein apheresis, she developed exertional angina at 17 weeks' gestation and was diagnosed with multi-vessel coronary artery disease. She underwent successful off-pump coronary artery bypass grafting at 19 weeks. She made a good recovery and the rest of her pregnancy progressed well, with delivery of a healthy infant at 37 weeks following emergency caesarean section. This case highlights the high cardiovascular risk associated with HoFH in pregnancy and the importance of multi-disciplinary management, including consideration of lipid-lowering therapy, lipoprotein apheresis and surgical intervention.