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Updated: Jul 27, 2025
10:56
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
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A case of hypocholesterolemia under study
Ana Camacho1, María José Ariza2, Nuria Amigó3
1Servicio de Medicina Interna, Hospital Infanta-Elena, Huelva, España.
Summary
This study identifies a rare genetic cause of low cholesterol: a PCSK9 gene variant leading to asymptomatic familial hypobetalipoproteinemia. This finding aids in diagnosing lipid metabolism disorders.
Area of Science:
- Genetics
- Metabolic Disorders
- Molecular Biology
Background:
- Primary hypocholesterolemia is a rare lipoprotein metabolism disorder, presenting as symptomatic or asymptomatic forms.
- Low plasma ApoB levels below the 5th percentile suggest hypobetalipoproteinemia in the absence of secondary causes.
Observation:
- A case of asymptomatic hypocholesterolemia was investigated through clinical data, lipid profiles, and family history.
- Differential diagnosis pointed towards heterozygous hypobetalipoproteinemia linked to PCSK9 loss-of-function variants.
Findings:
- Genetic testing revealed a heterozygous PCSK9 frame-shift variant of maternal origin in the proband.
- Plasma LDL cholesterol and PCSK9 levels in the family confirmed the segregation of the identified variant.
Implications:
- Genetic diagnosis confirmed asymptomatic familial hypobetalipoproteinemia due to PCSK9 loss-of-function.
- This highlights the importance of genetic testing in diagnosing rare lipid metabolism disorders.
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