Familial Hypercholesterolemia Background Information.ppt

REDO this slide. Animate it! Mention that it is a “Gain of Function” mutation in PCSK9 that leads to FH. 1000 mutations in the LDL receptor have been identified in FH patients and different mutations lead to variations in phenotype (LDL-C levels, risk of CAD). Other mutations that lead to increased LDL-C include those in the Apo B and PCSK9 genes. PCSK9 down-regulates LDLR. FH Presentations Mutations in Apo B and PCSK9 are less common that those in LDLR (1:2,500 and 1:1,000, respectively).2 FH Presentations In North America and Europe the prevalence of heterozygous FH is approximately