Type I Hyperlipoproteinemia clinical performance

Type I Hyperlipoproteinemia extremely rare, genetic disease, the Department of lipoprotein lipase congenital defect Exogenous hydrolysis of triglycerides can be caused substantial accumulation of chylomicrons in blood. The disease often in adolescence, and the 10-year-old was found within, it has been reported in the first week after birth shall be Discoverer. The main clinical manifestations are : (a) changes in the skin, for the earliest symptoms. In the elbow, back and buttocks can be seen measles-yellow tumor. But no eyelid xanthelasmas and muscle-yellow tumor. (2) When the serum triglyceride "Moore 22.6 cents / liter, fundus, there will be the service hyperlipidemia retinopathy. (3) hepatosplenomegaly, the degree of blood triglyceride content with the change. (4) recurrent abdominal pain. Its biochemical characteristics : Because chylomicrons increased, the plasma was like butter, placed 4 ℃ refrigerator overnight. upper in a "butter" - like cover, and lower clarification; significantly higher triglyceride, cholesterol and normal or only mildly increased, cholesterol / triglyceride ratio "0.2.