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Updated: May 6, 2026
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 young male with familial hypercholesterolemia
Afzalur Rahman1, Moeen Uddin Ahmed, A K M Monwarul Islam
1Sir Salimullah Medical College & Mitford Hospital, Dhaka.
Journal of the Saudi Heart Association
|November 1, 2013
Summary
This case study highlights a rare genetic disorder causing severe hyperlipidemia in a child. Standard lipid-lowering treatments were ineffective, complicating management due to the unavailability of advanced therapies like apheresis.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- A nine-year-old Bangladeshi male presented with tuberous xanthomata since birth.
- Family history positive for xanthelasma in father and paternal/maternal grandfathers.
Purpose of the Study:
- To describe a complex case of severe hyperlipidemia in a child.
- To discuss the challenges in managing this condition.
Main Methods:
- Clinical examination and extensive laboratory investigations for dyslipidemia.
- Assessment of response to various lipid-lowering agents and niacin therapy.
Main Results:
- Extreme dyslipidemia with very high total cholesterol, LDL-C, triglycerides, Apo-B, and lipoprotein(a); low Apo-A.
- Ineffectiveness of cholestyramine, atorvastatin, ezetimibe, and niacin in improving lipid profiles.
Conclusions:
- Management is complicated by the unavailability of lipid apheresis in Bangladesh.
- This case underscores the need for accessible advanced therapies for rare genetic lipid disorders.
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