familial hypercholesterolemia

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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