Definition

1. Noun:
   • A genetic disorder: "familial hypercholesterolemia" is a specific, inherited medical condition.
   • Characterized by high cholesterol: The primary feature is abnormally high levels of low-density lipoprotein (LDL) cholesterol in the blood from birth.
   • Associated with early atherosclerosis: This condition leads to the premature development of atherosclerosis (hardening and narrowing of the arteries), increasing the risk of early heart disease.

Usage Examples

• Noun:
  • Diagnosing familial hypercholesterolemia early is crucial for managing cardiovascular risk.
  • The patient's extremely high LDL levels and family history were consistent with familial hypercholesterolemia.
  • Treatment for familial hypercholesterolemia often involves a combination of medication and strict dietary changes.

Advanced Usage

• "Heterozygous familial hypercholesterolemia": The more common form of the condition, where a person inherits one defective gene.
  • Individuals with heterozygous familial hypercholesterolemia have LDL cholesterol levels roughly double the normal range.
• "Homozygous familial hypercholesterolemia": A rare, severe form where a person inherits two defective genes.
  • Homozygous familial hypercholesterolemia requires aggressive treatment from childhood.

Variants and Related Words

• FH (n): A common abbreviation for "familial hypercholesterolemia".
  • Screening for FH is recommended for individuals with a family history of early heart attacks.
• Hypercholesterolemia (n): The general medical term for high blood cholesterol, which can have various causes, not just genetic.
  • While hypercholesterolemia can be diet-related, familial hypercholesterolemia is specifically genetic.

Synonyms

• Autosomal dominant hypercholesterolemia: A more technical term describing its inheritance pattern.
• Type II hyperlipoproteinemia: An older classification term for this disorder.

Related Phrases

• Genetic testing for familial hypercholesterolemia: The process of using DNA analysis to confirm a diagnosis.
  • Genetic testing for familial hypercholesterolemia can identify affected family members.
• Cascade screening for familial hypercholesterolemia: A systematic process of testing close relatives of an identified patient.
  • Cascade screening is an effective public health strategy for finding undiagnosed cases of familial hypercholesterolemia.

Noun

1. congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis