Are High Cholesterol Levels Troubling You? Familial Hypercholesterolemia May Have A Role

Familial Hypercholesterolemia (FH) is a condition characterized by elevated levels of ‘bad’ or low-density lipoprotein (LDL) cholesterol.

This condition occurs in nearly 1 in 500 individuals.

According to the European Atherosclerosis Society, there is a 13 fold increased risk of coronary heart disease for people with FH.

What’s more? Nearly 90% of FH patients remain undiagnosed!

Familial Hypercholesterolemia Genes

Cholesterol is a precursor for many molecules like vitamin D, bile acids, and even steroid hormones.

It forms the lipid component of cell membranes, aiding in stabilizing, and maintaining the integrity of the membrane.

Nearly one-fifth of circulating cholesterol is from the diet consumed.

High intake of cholesterol-rich foods increases serum cholesterol levels temporarily, with a reduction in levels after about seven hours.

Cholesterol is synthesized primarily in the liver, intestines, adrenal gland, and in the reproductive organs.

Cholesterol transport

LDL particles transport cholesterol from the liver to the extremities, while HDL particles transport cholesterol from the extremities back to the liver, where it is removed from the body.

The genes associated with familial hypercholesterolemia are LDLR, which codes for the LDL receptor, APOB that codes for apolipoprotein B100, and PCSK9 genes that code for proprotein convertase subtilisin/Kexin type 9, which promotes intracellular degradation by binding to LDLR.

80% of FH incidences are due to variations in the LDLR genes, followed by variations in the APOB and PCSK9 genes.

Xcode Life's Gene Health Report provides information about familial hypercholesterolemia.

An understanding of risk will help in the initiation of therapeutic strategies that can lower risk.

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How can you find out your genetic risk for familial hypercholesterolemia risk?

Upload your 23andme, Ancestry DNA, or FTDNA raw data to find out if you have the genetic variants associated with increased risk of familial hypercholesterolemia.