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A young type III hyperlipoproteinemic patient associated with apolipoprotein E deficiency
1Department of Internal Medicine, Kanazawa University School of Medicine, Kanazawa, Japan.
Metabolism: Clinical and Experimental
|February 1, 1989
Summary
Apolipoprotein E (Apo E) deficiency can cause early-onset type III hyperlipoproteinemia (HLP), characterized by high VLDL cholesterol and triglyceride levels. This rare genetic condition affects lipid metabolism, leading to visible xanthomas from a young age.
Area of Science:
- Biochemistry
- Genetics
- Clinical Medicine
Background:
- Type III hyperlipoproteinemia (HLP) is a lipid disorder.
- Apolipoprotein E (Apo E) plays a crucial role in lipoprotein metabolism.
Observation:
- A 13-year-old female presented with tuberoeruptive xanthomas since age 3.
- She exhibited markedly elevated serum VLDL and IDL cholesterol, with a high VLDL-cholesterol/serum triglyceride ratio (0.86).
- Apo E was undetectable, suggesting Apo E deficiency.
Findings:
- The patient's genetic analysis showed no gross restriction fragment length differences, consistent with Apo E deficiency.
- Family history revealed hypertriglyceridemia in parents and normal lipid profiles and Apo E levels in siblings.
Implications:
- Apo E deficiency is linked to early clinical manifestations of type III HLP.
- This condition presents with distinct lipid profiles, including a higher VLDL-cholesterol/serum triglyceride ratio.
- Early diagnosis and management are crucial for patients with Apo E deficiency and type III HLP.