Familial hypercholesterolemia
Alternate Names : Type II hyperlipoproteinemia, Hypercholesterolemic xanthomatosis, Low density lipoprotein receptor mutation
Symptoms & Signs
Symptoms that may occur include: Persons with either one or two copies of the defective gene can develop fatty skin deposits over their elbows, knees, buttocks, tendons, and around the cornea of the eye.
Diagnosis & 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 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 250 mg/dL in children
- LDL greater than 200 mg/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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