Pregnancy outcome in familial homozygous hypercholesterolemic females treated with long-term plasma exchange

Background. The use of plasma-exchange therapy has increased the longevity of patients with homozygous familial hypercholesterolemia (HFH), and pregnancy in affected women is expected to become more common. We describe the clinical course, feasibility and risks of repeated pregnancies in patients with HFH treated by long-term plasma exchange.Methods. We followed the clinical course of five pregnancies in two HFH patients, with attention to the effect of repeated plasma exchange on maternal and fetal status; specifically, lipid profile, hemodynamics, and uteroplacental circulation on Doppler flow study.Results. Increasing the frequency of plasma-exchange therapy prevented the extreme serum cholesterol elevation that occurs in pregnant HFH patients and was associated with a significant improvement in uteroplacental circulation. In four pregnancies the clinical course was uneventful, ending in normal deliveries of full-term infants with heterozygous familial hypercholesterolemia. The third pregnancy of one o...