Familial lipoprotein lipase deficiency
Symptoms may start in infancy and include:
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 layer of cream due to chylomicrons will appear when blood spins in a laboratory machine. The triglyceride level is extremely high.
Benlian P, De Gennes JL, Foubert L, Zhang H, Gagne SE, Hayden M. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N Engl J Med. 1997;336(14):1026-1027.