Rader - Figure 9 - FH due to loss-of-function mutations in the LDL receptor
Probably the most common type of severe hypercholesterolemia occurs with mutations in the LDL receptor - the classic form of FH when loss of function mutations in the LDL receptor lead to impaired uptake of LDL-C and high levels of LDL in the blood. As shown in the Figure, >1000 separate mutations in the LDL receptor have been described. This means that FH is not a disorder where a single mutation is most prevalent in the population (as occurs in, for example, cystic fibrosis). Rather most mutations are relatively rare and restricted to the affected families, except for certain areas of the world where there is a founder effect and a single mutation has become unusually prevalent.
Rader
J Clin Lipidol.
2012;
