Symptoms:

• Abdominal pain (may appear as colic in infancy)
• Nausea
• Vomiting
• Loss of appetite
• Failure to thrive in infancy
• Musculoskeletal pain
• Fatty deposits in the skin (xanthomas)

Signs and tests:

A physical examination may reveal fatty deposits in the skin, a swollen liver and spleen, and yellowing of the eyes and skin (jaundice). An eye examination reveals pale retinas and white-colored blood vessels in the retinas.

Blood tests will be done to check cholesterol and triglyceride levels. 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.