120
views
0
recommends
+1 Recommend
1 collections
    4
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Pregnancy in a Woman with Homozygous Familial Hypercholesterolemia Not on Low-Density Lipoprotein Apheresis

      case-report
      , M.D. 1 , , M.D. 2
      AJP Reports
      Thieme Medical Publishers
      homozygous familial hypercholesterolemia, pregnancy, LDL apheresis, outcome

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          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.

          Most cited references11

          • Record: found
          • Abstract: found
          • Article: not found

          High body mass index and hypercholesterolemia: risk of hypertensive disorders of pregnancy.

          To examine the relationship between pregravid body mass index (BMI), elevated cholesterol level, and the development of hypertensive disorders of pregnancy. We studied 15,262 women who gave birth between 1991 and 1995. Pregravid exposures including BMI and self-reported history of elevated cholesterol were ascertained by biennial mailed questionnaires. Gestational hypertension or preeclampsia was confirmed by medical record review according to standard criteria. Proportional hazards analysis was used to adjust for potential confounding variables. We confirmed 216 cases of gestational hypertension and 86 cases of preeclampsia. The risk of gestational hypertension increased as pregravid BMI increased (P < .01). Compared with women with a pregravid BMI of 21-22.9 kg/m2, the relative risk (RR) of gestational hypertension was 1.6 (95% confidence interval [CI] 1.0, 2.3) for women with BMI of 23-24.9 kg/m2, 2.0 (95% CI 1.3, 3.0) for BMI 25-29.9 kg/m2, and 2.6 (95% CI 1.6, 4.4) for BMI over 30 kg/m2. Leaner women (BMI less than 21 kg/m2) had a reduced risk (RR 0.7, 95% CI 0.4, 1.0). For preeclampsia, the RR of women with pregravid BMI over 30 kg/m2 was 2.1 (95% CI 1.0, 4.6) (P for trend 0.09). A history of elevated cholesterol was not associated with the risk of gestational hypertension (RR 0.9, 95% CI, 0.6, 1.4). In contrast, the RR of preeclampsia in women with a history of elevated cholesterol was 2.0 (95% CI 1.2, 3.3). Pregravid BMI and hypercholesterolemia could identify women at higher risk for hypertensive disorders during pregnancy.
            Bookmark
            • Record: found
            • Abstract: found
            • Article: found
            Is Open Access

            Familial Hypercholesterolemia: The Lipids or the Genes?

            Familial Hypercholesterolemia (FH) is a common cause of premature cardiovascular disease and is often undiagnosed in young people. Although the disease is diagnosed clinically by high LDL cholesterol levels and family history, to date there are no single internationally accepted criteria for the diagnosis of FH. Several genes have been shown to be involved in FH; yet determining the implications of the different mutations on the phenotype remains a hard task. The polygenetic nature of FH is being enhanced by the discovery of new genes that serve as modifiers. Nevertheless, the picture is still unclear and many unknown genes contributing to the phenotype are most likely involved. Because of this evolving polygenetic nature, the diagnosis of FH by genetic testing is hampered by its cost and effectiveness. In this review, we reconsider the clinical versus genetic nomenclature of FH in the literature. After we describe each of the genetic causes of FH, we summarize the known correlation with phenotypic measures so far for each genetic defect. We then discuss studies from different populations on the genetic and clinical diagnoses of FH to draw helpful conclusions on cost-effectiveness and suggestions for diagnosis.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Differential indication of lipoprotein apheresis during pregnancy.

              Lipoprotein apheresis is an effective treatment for severe disorders of lipid metabolism. It is the only life prolonging therapy for patients with homozygous familial hypercholesterolemia. Changes of lipid metabolism during pregnancy related to changes of hormone concentrations do not cause clinical complications in the majority of cases. However, in particular clinical situations there is the need to offer a therapeutic option. Increasing morbidity and mortality of mother and child due to severe disorders of lipid metabolism have to be prevented. In general, lipid lowering drugs are contraindicated during pregnancy. Therefore, lipoprotein apheresis offers an alternative, which could be used in select cases to treat acute or chronic hyperlipoproteinemia associated with pregnancy. This article summarizes experiences with patients, who became pregnant during chronic lipoprotein apheresis, or who were treated by lipoprotein apheresis because of acute disorders of lipid metabolism during pregnancy. In conclusion, after individual risk benefit analysis for mother and child lipoprotein apheresis can be safely performed during pregnancy.
                Bookmark

                Author and article information

                Journal
                AJP Rep
                AJP Rep
                AJP Reports
                Thieme Medical Publishers (333 Seventh Avenue, New York, NY 10001, USA. )
                2157-6998
                2157-7005
                22 February 2012
                November 2012
                : 2
                : 1
                : 33-36
                Affiliations
                [1 ]Department of Genetics, Harvard Medical School, Boston, Massachusetts
                [2 ]Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon
                Author notes
                Address for correspondence and reprint requests Anwar H. Nassar, M.D. Department of Obstetrics and Gynecology, American University of Beirut P.O. Box 113-6044/B36, BeirutLebanon an21@ 123456aub.edu.lb
                Article
                02033
                10.1055/s-0032-1305798
                3653520
                23946902
                e9613ac4-d165-49e2-bd13-4f51f8f7a28b
                © Thieme Medical Publishers
                History
                : 26 September 2011
                : 03 December 2011
                Categories
                Article

                homozygous familial hypercholesterolemia,pregnancy,ldl apheresis,outcome

                Comments

                Comment on this article