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A physical examination may reveal xanthomas, an enlarged liver, an enlarged spleen, and jaundice. An eye examination reveals pale retinas and whitish retinal vessels.
Tests or observations that may indicate this disorder is present include:
- Milky-appearing serum or plasma from blood
- A special test showing little or no lipoprotein lipase activity in blood collected after treatment with intravenous heparin
- High triglycerides in blood
- Elevation of cholesterol and total fat in blood
- Blood test showing failure to remove chylomicrons from blood more than 12 hours after a meal
- Overnight icebox test showing chylomicrons in blood serum taken after fasting
- Test for apolipoprotein CII deficiency, which may cause a rare subset of this disease in people with normal lipoprotein lipase activity
- Genetic testing, which may reveal a mutation in the genes for lipoprotein lipase or apolipoprotein CII
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