Familial lipoprotein lipase deficiency
Alternative names:
type I hyperlipoproteinemia
Symptoms:
Signs and tests:
A physical examination reveals xanthomas, an enlarged liver and an enlarged spleen. An eye examination reveals pale retinas and white retinal vessels.
Tests that may indicate this disorder is present include: - a post-heparin assay special test showing absence of lipoprotein lipase activity
- elevated triglycerides
- an overnight icebox test showing chylomicrons in fasting serum
- an apolipoprotein CII
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