Familial hypercholesterolemia (FH) is a genetic condition caused by over 2,000 polymorphisms affecting LDL receptors or other pathways, leading to very high serum LDL.

“FH is familial hypercholesterolemia it's a model system for elevated levels of LDL which really shouldn't be a model system because it's a genetic polymorphism that causes people's serum LDL to be very high there are over 2,000 polymorphisms that can cause familial hypercholesterolemia”

“is FH a phenotype or a genotype because I'm in sort of a standing disagreement with people over this I've heard people say oh FH is a phenotype and I say it's not a freaking it's a genotype it's a genetic mutation that leads to this”

“there is this this I would say genotype there is this familial hyper cholesterol familial hyper cholesterolemia genotype whereby people have a genetic reason over 200 different polymorphisms mutations they get high levels of LDL cholesterol”

“it's thought of as a phenotype it it's it's really a genetic basis generally this whole idea of like familial hypercluster Almia being a phenotype is it's never really sat right with me”

“so there are at least 2,000 vaguely identified genetic causes of familial hypercholesterolemia they have fewer receptors”

“so in that case no one really I don't say nobody cares but it's a lot less interesting to try to map out each and every one of the genes that can lead to familial hypercholesterolemia it's more important to understand the phenotype and how to treat it”