Familial hypercholesterolaemia

Familial hypercholesterolaemia ( FH ) is a genetic disorder affecting the metabolism of low density lipoprotein ( LDL ) particles leading to high LDL cholesterol levels maintained over time and higher risk of cardiovascular disease early in life ( Atherosclerosis-journal.com )

Brown and Goldstein for the first time explained the molecular basis of FH about 3 decades ago which provided the basis of link between LDL and CV disease due to atherosclerosis FH is amongst the commonest inherited metabolic disorder Prevalence of FH is estimated to be between 1 in 200-500 The prevalence is more common in persons with established coronary heart disease ( ie frequent disorder in patients with ACS ) It is widely believed that FH is more prevalent than considered historically with an overall prevalence rate of 1:200-300 individuals in the general population The prevalence also varies among populations and regions based on factors as detection methods , criteria ,availability of genetic testing & intrinsic characteristic of different populations

What happens - Mutations in 4 genes have been found with the LDL receptor being the most common Inheritance is autosomal dominant ( most cases ) with homozygous suffering with double the LDL cholesterol levels in comparison to...