PREGNANCY IN A PATIENT WITH HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA TREATED WITH LONG-TERM LOW-DENSITY-LIPOPROTEIN APHERESIS

The pregnancy and delivery of a subject with homozygous familiar hyper cholesterolemia (FH) and coronary artery disease (CAD) were monitored closely for signs of maternal and fetal distress. Biweekly treatment w ith low-density lipoprotein (LDL) apheresis using dextran-sulfate cell ulose columns was continued throughout the pregnancy, and lipid and li poprotein levels were evaluated. During the course of the pregnancy an d delivery, no signs of maternal coronary insufficiency developed. Ser ial ultrasonographic measurements of fetal growth indices and the bloo d flow velocity waveforms (FVWs) of the uterine and umbilical artery d id not reveal any sign of fetal growth retardation or insufficiency of the uteroplacental circulation, respectively. During pregnancy, time- averaged concentrations of serum total cholesterol (TC). LDL cholester ol (LDL-C), apolipoprotein (ape) B, and lipoprotein(a) [Lp(a)] showed a gradual decline. Notwithstanding LDL apheresis, a gradual twofold in crease of serum triglyceride (TG) levels was found. In the second and third trimester, high density lipoprotein cholesterol (HDL-C) levels s howed a 55% increase that coincided with a 75% reduction in hepatic li pase activity in postheparin plasma, normalizing after parturition. Af ter delivery, Ip(a) levels showed an almost twofold increase, which co uld not be explained by the interruption of LDL apheresis alone, and m ay be caused by changes in gonadal steroids. Histologic examination of the placenta and the umbilical arteries revealed no atherosclerotic c hanges, infarctions, or lipid deposits. In general, long-term LDL aphe resis in homozygous FH can delay the onset and complications of severe CAD. In case of a pregnancy, LDL apheresis seems feasible and should be continued during the pregnancy to prevent superimposed hyperlipidem ia and placental insufficiency. Copyright (C) 1994 by W.B. Saunders Co mpany