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Familial lipoprotein lipase deficiency

  • Alternative Names

    Type I hyperlipoproteinemia; Familial chylomicronemia


    Symptoms
    • Abdominal pain (may appear as colic in infancy)
    • Loss of appetite
    • Nausea
    • Pain in the muscles and bones (musculoskeletal pain)
    • Vomiting

    Signs and tests

    Signs of this condition include:

    • Enlarged liver
    • Failure to thrive in infancy
    • Fatty deposits in the skin (xanthomas)
    • High triglyceride levels in the blood
    • Pale retinas and white-colored blood vessels in the retinas
    • Pancreatitis that keeps returning
    • Yellowing of the eyes and skin (jaundice)

    Blood tests will be done to check cholesterol and triglyceride levels. Rarely, a special blood test may be done after you are given blood thinners through a vein. This test looks for lipoprotein lipase activity in your blood.

    Genetic tests may be done, including one for apolipoprotein CII deficiency.