Familial hypercholesterolemia

Familial hypercholesterolemia is an inherited disorder that impairs removal of low-density lipoprotein cholesterol from the blood, causing high LDL levels and increased risk of premature cardiovascular disease.

Low-density lipoprotein receptor: A cell-surface protein that removes LDL particles from the bloodstream by binding and internalizing them. Most familial cases involve variants that reduce this receptor’s number or function.
Cascade screening: Systematic testing of relatives of a person diagnosed with an inherited condition. Testing family members can identify affected relatives before symptoms or cardiovascular events occur.
Premature coronary artery disease: Atherosclerotic disease of the heart’s arteries occurring unusually early in life. Lifelong elevated LDL markedly increases this risk, especially in untreated severe disease.
Polygenic hypercholesterolemia: Elevated LDL cholesterol produced by the combined effects of many common genetic variants. It is more common than monogenic familial hypercholesterolemia and often has a less striking family pattern.
LDLR gene: The gene encoding the low-density lipoprotein receptor. Pathogenic variants in LDLR account for most cases of familial hypercholesterolemia.
Genetic testing: Analysis of DNA to identify inherited variants associated with a condition. A pathogenic variant can confirm the diagnosis and clarify which relatives may need testing.
Atherosclerosis: A chronic disease in which lipid-rich plaques develop in artery walls. Persistently high LDL accelerates plaque formation in familial hypercholesterolemia.
Secondary hypercholesterolemia: High blood cholesterol caused by another condition, medication, or external factor. Hypothyroidism and some medicines can raise LDL without an inherited LDL-receptor disorder.
APOB gene: The gene encoding apolipoprotein B, the main structural protein of LDL particles. Some variants impair LDL binding to its receptor, producing a familial hypercholesterolemia phenotype.
Statin: A drug that lowers blood cholesterol by inhibiting HMG-CoA reductase. Statins are usually the first-line medicines for lowering LDL in affected people.

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