Key result
A 24-year-old woman with homozygous familial hypercholesterolemia had an uncomplicated pregnancy and delivered a healthy infant without the use of low-density lipoprotein apheresis.
Why the study?
Does withholding LDL apheresis result in safe pregnancy outcomes in a woman with homozygous familial hypercholesterolemia?
Case Report (n=1)
No
Does withholding LDL apheresis result in safe pregnancy outcomes in a woman with homozygous familial hypercholesterolemia?
This case report demonstrates that an uncomplicated pregnancy is possible in a woman with clinically diagnosed homozygous familial hypercholesterolemia without the use of LDL apheresis.
Successful HoFH pregnancy without apheresis possible in this case; hypothesis-generating and leaves generalizability open.
Pregnancy in women with homozygous familial hypercholesterolemia (FH) has been rarely reported and might pose risks on the mother and her fetus. Although most reported cases remained on low-density lipoprotein (LDL) apheresis, there are no clear guidelines regarding the management of this entity. We report the first case of an uncomplicated pregnancy in a 24-year-old homozygous FH woman who was not maintained on LDL apheresis. FH expresses a wide variability in the phenotype, and management of homozygous FH cases who desire to become pregnant should be individualized based on preconceptional assessment with frequent antenatal follow-up. Decisions on management should be made after weighing the risks versus benefits of LDL apheresis.
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Fahed et al. (2012) conducted a case report in Homozygous familial hypercholesterolemia in pregnancy (n=1). Management without LDL apheresis was evaluated on Pregnancy outcome. A 24-year-old woman with homozygous familial hypercholesterolemia had an uncomplicated pregnancy and delivered a healthy infant without the use of low-density lipoprotein apheresis.
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