It is a metabolic disorder which causes elevated LDL cholesterol plasma levels. The reason for Familial Hypercholesterolemia (FH) is a genetically determined and leads to LDL receptor mutation or to a mutation in the lipoprotein ApoB of LDL cholesterol. Lipoprotein a (Lp(a)), which is similar to LDL cholesterol, can also be elevated. Both are independent risk factors for atherosclerosis.
Heterozygous patients of FH have untreated LDL cholesterol levels of 200-500mg/dL, while homozygous patients can even reach levels up to 1000mg/dL and experience their first cardiac event before 20 years if the LDL cholesterol level remains untreated. Lp(a) is recognized as risk factor for atherosclerosis when reaching levels above 30mg/dL.