Familial hypercholesterolemia

Definition

Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically low-density lipoprotein (LDL), leading to an increased risk of cardiovascular disease. It is caused by mutations in genes involved in LDL receptor function.

5 Must Know Facts For Your Next Test

1. FH is inherited in an autosomal dominant pattern, meaning one copy of the altered gene is sufficient to cause the disorder.
2. Patients with FH typically have elevated levels of LDL cholesterol from birth.
3. Untreated FH significantly increases the risk of early-onset coronary artery disease.
4. Statins are commonly used to manage and reduce LDL cholesterol levels in patients with FH.
5. Genetic testing can confirm a diagnosis of FH and help guide treatment options.

Review Questions

• What genetic pattern does familial hypercholesterolemia follow?
• Why are statins commonly prescribed for patients with FH?
• How does familial hypercholesterolemia affect cardiovascular health?

Related terms

Low-Density Lipoprotein (LDL): A type of lipoprotein responsible for transporting cholesterol to cells, often referred to as 'bad' cholesterol.

Statins:

A class of lipid-lowering medications that inhibit the enzyme HMG-CoA reductase, reducing cholesterol synthesis.

Coronary Artery Disease (CAD):

A condition characterized by the narrowing or blockage of coronary arteries due to plaque buildup, leading to reduced blood flow to the heart.