Familial Hypercholesterolemia (FH) affects 1 in 250 individuals, is autosomal dominant, and is associated with a 20-fold increased risk of cardiovascular disease (CVD).

“if you have a mutation in the ldr receptor you can't bind the fob and then if you have a very active pcsk9 and you basically degrade all your LDL receptors the end result is the same there's not enough LDL receptors for the LDL particles so all three things converge at the surface of your liver cell and the problem with either one of the three always leads to elevated LDL cholesterol”

“in our country pcsk9 mutations gain of function are very rare 0.5 percent”

“mutations in these three genes that we just described are very preferent in the general population in fact we have calculated that they are probably like 1 in 250 which makes FH by far the most frequent autosomal dominant disorder in men”