Familial hypercholesterolemia
Alternative Names
Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutationSymptoms
Symptoms that may occur include:
- Fatty, cholesterol-rich skin deposits (xanthomas)
- Cholesterol deposits in the eyelids (xanthelasmas)
- Chest pain (angina) associated with coronary artery disease
- Obesity
Persons with two copies of the defective gene develop fatty skin deposits over their elbows, knees, buttocks, tendons, and around the cornea of the eye.
Exams and Tests
A physical examination may reveal fatty skin growths called xanthomas and cholesterol deposits in the eye (corneal arcus).
Other signs include:
- A strong family history of familial hypercholesterolemia or early heart attacks
- High levels of LDL that resist treatment in either or both parents
Individuals from families with a strong history of early heart attacks should have blood tests done to determine lipid levels. Blood tests may show:
- High levels of total cholesterol
- Greater than 300 mg/dL in adults
- Greater than 250mg/dL in children
- LDL greater than 200mg/dL
- High level of triglycerides
Other tests that may be done include:
- Heart function (stress) test
- Studies of cells called fibroblasts to see how the body absorbs LDL cholesterol
- Genetic test for the defect associated with this condition
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