Medical Term for High Cholesterol
The medical term for high cholesterol is hypercholesterolemia or dyslipidemia, with specific subtypes including familial hypercholesterolemia (FH) when genetically inherited, and hyperlipidemia when referring to broader lipid abnormalities. 1
Terminology Breakdown
Hypercholesterolemia specifically refers to elevated cholesterol levels in the blood, defined by elevations in total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), non-HDL cholesterol, or combinations thereof. 1
Dyslipidemia is a broader term encompassing any disorder of lipoprotein metabolism, whether genetic or multifactorial, including not only elevated cholesterol but also elevated triglycerides and reduced HDL cholesterol levels. 1
Specific Clinical Subtypes
Familial Hypercholesterolemia (FH)
- Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant inherited disorder caused by mutations in the LDL receptor gene, resulting in deficient or defective LDL receptors and impaired clearance of LDL particles from circulation. 1, 2
- Affects approximately 1 in 200-500 individuals in North America and Europe. 1, 3
- Characterized by LDL-C levels typically 2-3 times higher than unaffected individuals, often ranging from 200-400 mg/dL. 1, 2
Homozygous Familial Hypercholesterolemia (HoFH)
- A more severe form presenting earlier with a more pronounced clinical phenotype, requiring specialist center referral. 1
- LDL-C concentrations can vary but diagnostic threshold of <10 mmol/L (<400 mg/dL) should be used clinically. 1
Multifactorial Dyslipidemia
- Defined by elevations in LDL-C (≥130 mg/dL) or TC (≥200 mg/dL) not attributable to familial hypercholesterolemia, with both polygenic and environmental causes including obesity. 1
Severe Hypercholesterolemia (SH)
- Includes all individuals with LDL-C ≥190 mg/dL, regardless of cause, representing a fivefold increased long-term risk for coronary artery disease. 4, 5
Clinical Context
The term used depends on the clinical context: use "familial hypercholesterolemia" when genetic inheritance is confirmed or suspected based on family history and extreme elevations; use "hypercholesterolemia" for general elevated cholesterol; and use "dyslipidemia" when multiple lipid abnormalities are present. 1, 3, 6