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 of the patients had to be terminated owing to the development of hypotension and syncope during plasma exchange because of severe aortic stenosis. Conclusions. Repeated pregnancies in HFH patients treated by long-term plasma exchange are feasible but may be associated with untoward effects, especially hemodynamic compromise. The frequency of plasma exchange therapy should be increased to prevent marked hypercholesterolemia and its possible deleterious effect on maternal and fetal status. Cardiac evaluation with close hemodynamic monitoring are needed during pregnancy to detect complications of the cardiac valvular lesion and the coronary atherosclerosis that are associated with HFH.
- Familial homozygous hypercholesterolemia