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Severe Combined Dyslipidemia With a Complex Genetic Basis.
Ryan Le1, Minan Abbas1, Adam D McIntyre1
1Western University, London, Ontario, Canada.
Journal of Investigative Medicine High Impact Case Reports
|September 21, 2019
Summary
Familial dysbetalipoproteinemia, a severe lipid disorder, can be worsened by multiple genetic factors beyond the typical APOE E2/E2 genotype. This case highlights how combined genetic variations lead to refractory hyperlipidemia.
Area of Science:
- Genetics
- Lipidology
- Cardiovascular Medicine
Background:
- Familial dysbetalipoproteinemia (Type 3 hyperlipoproteinemia) is linked to APOE E2 homozygosity or rare APOE variants.
- It causes high cholesterol and triglycerides due to remnant lipoproteins, leading to xanthomas and vascular disease.
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