Hyperlipoproteinaemia type 1 (Q98421)

Type I hyperlipoproteinemia exists in several forms: Lipoprotein lipase deficiency (Type Ia), due to a deficiency of lipoprotein lipase (LPL) or altered apolipoprotein C2, resulting in elevated chylomicrons, the particles that transfer fatty acids from the digestive tract to the liver. Familial apoprotein CII deficiency (Type Ib), a condition caused by a lack of lipoprotein lipase activator. Chylomicronemia due to circulating inhibitor of lipoprotein lipase (Type Ic). Type I hyperlipoproteinemia usually presents in childhood with eruptive xanthomata and abdominal colic. Complications include retinal vein occlusion, acute pancreatitis, steatosis and organomegaly, and lipaemia retinalis.