High plasma levels of LDL-cholesterol. Cause: Decreased levels or activity of the LDL receptor. Increased cholesterol synthesis by the liver. Both of these causes plasma cholesterol level to increase to 250-500 mg/dl in heterozygous FH and 600-1000 mg/dl in homozygous FH individuals. Table 1. Plasma cholesterol levels in normal and familial hypercholesterolemic individuals. Plasma cholesterol Normal 150-200 mg/dl FH Heterozygote 250-500 mg/dl FH Homozygote 600-1000 mg/dl Table 2. Defects in the LDL receptor. Defect Phenotype Synthesis Most common defect, Receptor not synthesized in the ER Transport Receptor not transported to cell surface, accumulates inside cell LDL Binding Receptor on cell surface, cant bind to apo B on LDL Internalization Receptor binds to apo B on LDL, cant internalize LDL Recycling Receptor internalizes LDL, but isnt recycled to cell surface The LDL receptor pathway and regulation of cholesterol metabolism (McPherson & Pincus,2006) CLASS I MUTATION xanthelasma MIOKARDIUM
REVIEW KEBIJAKAN TENTANG PELAYANAN KESEHATAN PUSKESMAS DI DAERAH TERPENCIL PERBATASAN (Policy Review On Health Services in Primary Health Center in The Border and Remote Area)