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Chylomicronemia syndrome

  • Alternative Names

    Familial lipoprotein lipase deficiency


    Symptoms

    Symptoms may start in infancy and include:

    • Abdominal pain due to pancreatitis (inflammation of the pancreas)
    • Yellow deposits of fatty material in the skin called xanthomas may appear on the eyelids, palms of the hands, soles of the feet, or on the extensor surfaces of the knees and elbows

    Signs and tests

    Examination and tests may show an enlarged liver and spleen, inflammation of the pancreas, fatty deposits under the skin, and possibly deposits in the retina of the eye.

    A creamy layer due to chylomicrons in the blood will appear when blood spins in a laboratory machine.

    The triglyceride level is extremely high.