which of the following factors is a primary contributor underlying cause of familial hypercholesterolemia?
Which of the following factors is a primary contributor underlying cause of familial hypercholesterolemia?
Answer: The primary contributor to familial hypercholesterolemia (FH) is usually a genetic mutation. FH is an inherited condition caused by a mutation in one of the genes responsible for regulating cholesterol levels in the body.
Key Points:
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Genetic Mutation: The most common genes involved are the LDLR gene, APOB gene, or PCSK9 gene. Mutations in any of these genes affect the body’s ability to effectively remove low-density lipoprotein (LDL), often referred to as “bad cholesterol,” from the blood.
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Impact on Cholesterol Levels:
- LDLR Gene: This gene encodes the LDL receptor, which helps clear LDL cholesterol from the bloodstream. Mutations can lead to fewer receptors or receptors that do not work properly.
- APOB Gene: Mutations here affect apolipoprotein B, a protein that helps LDL cholesterol bind to its receptors.
- PCSK9 Gene: Mutations may increase the activity of the enzyme that breaks down LDL receptors, leading to higher LDL levels.
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Symptoms and Risks: This condition often leads to high cholesterol levels from a young age, increasing the risk of heart disease.
Summary: Familial hypercholesterolemia is primarily caused by genetic mutations affecting the body’s ability to manage LDL cholesterol. This genetic factor is the main underlying cause of the condition.