Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation
Symptoms
Symptoms that may occur include:
- Fatty, cholesterol-rich skin deposits (xanthomas)
- Cholesterol deposits in the eyelids (xanthelasmas)
- Chest pain (
angina ) associated withcoronary artery disease -
Obesity
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.
Signs and tests
A physical examination may reveal fatty skin growths called
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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