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Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
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Related Experiment Video

Updated: May 23, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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Familial hypercholesterolemia in pregnancy.

Fahad Alnouri1, Frederick J Raal2

  • 1Head of Cardiovascular Prevention Unit, Prince Sultan Cardiac Center, Riyadh, Saudi Arabia.

Current Opinion in Lipidology
|March 10, 2025
PubMed
Summary

Managing familial hypercholesterolemia (FH) during pregnancy requires balancing maternal LDL-cholesterol control with fetal safety. Specific guidelines for homozygous FH (HoFH) in pregnancy are lacking, necessitating further research and coordinated care.

Keywords:
familial hypercholesterolemiahomozygous familial hypercholesterolemialactationpregnancy

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Area of Science:

  • Cardiology
  • Genetics
  • Obstetrics

Background:

  • Familial hypercholesterolemia (FH) presents unique challenges in pregnancy, especially homozygous FH (HoFH) with severe LDL-cholesterol elevation from birth.
  • Underdiagnosis and undertreatment of FH are significant global issues, highlighting the need for increased awareness and improved diagnostic accessibility.

Purpose of the Study:

  • To review the complexities and current state of care for individuals with FH during pregnancy.
  • To identify gaps in evidence-based guidelines, particularly for homozygous FH (HoFH) management during pregnancy and lactation.

Main Methods:

  • Literature review focusing on FH management in pregnancy.
  • Analysis of current clinical practices and existing guidelines.

Main Results:

  • No evidence-based guidelines currently exist for managing HoFH during pregnancy planning, gestation, or lactation.
  • FH management during pregnancy necessitates balancing maternal LDL-cholesterol reduction with fetal well-being.

Conclusions:

  • Lipid-lowering medication discontinuation during pregnancy and postpartum should be considered; lipoprotein apheresis may be an option for severe HoFH.
  • Multidisciplinary care involving genetic counselors, cardiologists, lipidologists, and obstetricians is crucial.
  • Further research, public awareness, and global collaboration are essential for improving HoFH management in pregnancy.