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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
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Homozygous familial hypercholesterolemia.
M K Alicezah1, R Razali, T Rahman
1UiTM, Faculty of Medicine, Centre for Pathology Diagnostic and Research Laboratories, Malaysia. alicezah_80@yahoo.com.
The Malaysian Journal of Pathology
|September 8, 2014
Summary
This case study highlights a rare instance of homozygous familial hypercholesterolemia (HoFH) in a young woman, identified through incidental findings. Early diagnosis and genetic screening are crucial for managing this severe genetic lipid disorder and preventing coronary heart disease.
Area of Science:
- Genetics
- Cardiology
- Metabolic Disorders
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels.
- Homozygous familial hypercholesterolemia (HoFH) is a rare and severe form of FH.
- Early detection and intervention are critical to prevent premature cardiovascular disease.
Observation:
- A 22-year-old Malay woman with no prior cardiovascular history presented with xanthelasma and severe hypercholesterolemia (TC 15.3 mmol/L, LDL-C 13.9 mmol/L).
- She met the Simon Broome diagnostic criteria for FH.
- A family history revealed premature coronary heart disease (CHD) and consanguineous parental marriage.
Findings:
- Genetic analysis identified a homozygous C255S mutation in Exon 5 of the LDLR gene.
- No mutations were found in the APOB gene.
- The patient was diagnosed with HoFH.
Implications:
- This case underscores the importance of diagnostic criteria and genetic studies in identifying FH.
- Early detection through cascade screening can lead to timely treatment interventions.
- Prompt management of HoFH is essential to mitigate the risk of CHD and its complications.
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