familial hypercholesterolemia
Also written as: FH — familial hypercholesterolemia
A genetic disorder characterized by severely elevated LDL cholesterol from birth.
Full Definition
Familial hypercholesterolemia is an autosomal dominant genetic disorder affecting LDL receptor function, resulting in markedly elevated LDL cholesterol levels from birth and accelerated atherosclerosis. Heterozygous FH occurs in approximately 1 in 250 individuals and typically presents with LDL cholesterol levels of 190-400 mg/dL. Homozygous FH is much rarer but more severe, with LDL levels often exceeding 500 mg/dL. Early identification and aggressive treatment are crucial to prevent premature cardiovascular disease.
Usage
Usage note: Often abbreviated as FH. Distinguish between heterozygous and homozygous forms when relevant.
In Context
- "The patient's family history and LDL cholesterol of 320 mg/dL suggested possible familial hypercholesterolemia." — Clinical assessment
- "FH screening should be considered in patients with premature coronary disease or severe hypercholesterolemia." — Diagnostic guideline