Type I hyperlipoproteinemia; Familial chylomicronemia
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.