患有纯合子家族性高胆固醇血症且未进行低密度脂蛋白去除术的女性怀孕。
Pregnancy in a woman with homozygous familial hypercholesterolemia not on low-density lipoprotein apheresis.
作者信息
Fahed Akl C, Nassar Anwar H
机构信息
Department of Genetics, Harvard Medical School, Boston, Massachusetts.
出版信息
AJP Rep. 2012 Nov;2(1):33-6. doi: 10.1055/s-0032-1305798. Epub 2012 Feb 22.
Abstract
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.
摘要
纯合子家族性高胆固醇血症（FH）女性的妊娠情况鲜有报道，且可能对母亲及其胎儿构成风险。尽管大多数报道的病例持续接受低密度脂蛋白（LDL）单采术，但对于该疾病实体的管理尚无明确指南。我们报告首例未接受LDL单采术的24岁纯合子FH女性的无并发症妊娠病例。FH在表型上表现出广泛的变异性，对于希望怀孕的纯合子FH病例的管理应基于孕前评估并进行频繁的产前随访进行个体化处理。应在权衡LDL单采术的风险与益处后做出管理决策。
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