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Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein cholesterol (LDL cholesterol), in the blood and early cardiovascular diseases.
High cholesterol is often silent, but this cardiologist looks for a common sign.
Hypercholesterolemia, also called high cholesterol, is the presence of high levels of cholesterol in the blood. [1] It is a form of hyperlipidemia (high levels of lipids in the blood), hyperlipoproteinemia (high levels of lipoproteins in the blood), and dyslipidemia (any abnormalities of lipid and lipoprotein levels in the blood). [1]
About one in 250 individuals can have a genetic mutation for the LDL cholesterol receptor that causes them to have familial hypercholesterolemia. [80] Inherited high cholesterol can also include genetic mutations in the PCSK9 gene and the gene for apolipoprotein B. [81]
Cardiologist Dr. Stephanie Saucier, MD, FAAC, adds to this, saying, “There is an inherited genetic condition known as familial hypercholesterolemia where very high LDL cholesterol levels are ...
Diet does play some role, of course, but persistently elevated high cholesterol is between 70% and 80% genetics and between 20% and 30% diet and lifestyle, says Dr. Arash Bereliani, MD, a ...
Hyperlipidemia is abnormally high levels of any or all lipids (e.g. fats, triglycerides, cholesterol, phospholipids) or lipoproteins in the blood. [2] The term hyperlipidemia refers to the laboratory finding itself and is also used as an umbrella term covering any of various acquired or genetic disorders that result in that finding. [3]
Familial hypercholesterolemia (FH) can cause extremely high cholesterol. But most people don't know about it.