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Updated: Jan 24, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Severe hypercholesterolemia in a 2-year-old
Susanna Horner1, Luke Hamilton2, Tyler Hamby3
1University of North Texas Health Science Center, Fort Worth, TX, USA.
Insights
Cholesterol screening in children can detect familial hypercholesterolemia. This case highlights the importance of screening for secondary causes like hypothyroidism in children with high cholesterol.
Area of Science:
- Pediatrics
- Endocrinology
- Metabolic Disorders
Background:
- Routine and selective cholesterol screening effectively identifies children with familial hypercholesterolemia.
- Elevated cholesterol levels in children necessitate exclusion of secondary causes, such as hypothyroidism.
- Thyroid hormone significantly influences lipid metabolism, synthesis, and absorption.
Abstract:
Routine and selective cholesterol screening of children is an effective tool to help identify those with familial hypercholesterolemia. In children found to have elevated levels of cholesterol, secondary causes should be excluded, including hypothyroidism. Thyroid hormone has multiple effects on the regulation of lipid synthesis, absorption, and metabolism. In this case report, we described a 2-year-old with a history of congenital hypothyroidism who was found to have severe hypercholesterolemia. A detailed medical history and appropriate screening tests are important in determining the underlying cause of elevated low-density lipoprotein cholesterol to help inform clinical decision-making.
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