Hypercholesterolemic xanthomatosis
Key points
- A dominantly inherited genetic condition that results in markedly elevated LDL (low-density lipoprotein) cholesterol levels beginning at birth, and resulting in heart attacks at an early age.
- Affected people have consistently high levels of low-density lipoprotein, which leads to premature atherosclerosis of the coronary arteries.
- Signs and tests A physical examination may reveal xanthomas, xanthelasmas and cholesterol-laden deposits called a corneal arcus.
- The goal of treatment is to reduce the risk of atherosclerotic heart disease and heart attack.
Alternative names
Type II hyperlipoproteinemia; Familial hypercholesterolemia; Low density lipoprotein receptor mutation
Definition
A dominantly inherited genetic condition that results in markedly elevated LDL (low-density lipoprotein) cholesterol levels beginning at birth, and resulting in heart attacks at an early age.
Causes, incidence, and risk factors
Affected people have consistently high levels of low-density lipoprotein, which leads to premature atherosclerosis of the coronary arteries. Typically in affected men, heart attacks occur in their 40s to 50s, and 85% of men with this disorder have experienced a heart attack by age 60. The incidence of heart attacks in women with this disorder is also increased, but delayed 10 years later than in men.
Individuals from families with a strong history of early heart attacks should be evaluated with a lipid screen. Proper diet, exercise, and the use of newer drugs can bring lipids down to safer levels.
It is possible for a person to inherit two genes for this disorder. This magnifies the severity of the condition. Cholesterol values may exceed 600 mg/cc. Affected individuals develop waxy plaques (xanthomas) beneath the skin over their elbows, knees, buttocks. These are deposits of cholesterol in the skin. In addition, they develop deposits in tendons and around the cornea of the eye. Atherosclerosis begins before puberty and heart attacks and death may occur before age 30.
Symptoms
- a strong family history of familial hypercholesterolemia or early heart attack
- elevated and therapy-resistant levels of LDL in either or both parents
- xanthomas (lesions caused by cholesterol rich lipoprotein deposits)
- cholesterol deposits in the eyelids (xanthelasmas)
- chest pain (angina) associated with coronary artery disease
- evidence of obesity
Signs and tests
A physical examination may reveal xanthomas, xanthelasmas and cholesterol-laden deposits called a corneal arcus.
Laboratory testing may show:
- elevated triglycerides
- protein electrophoresis may show abnormal results
- total plasma cholesterol that is greater than 300 mg/cc (adult)
- total plasma cholesterol that is greater than 250 mg/cc (children)
- serum LDL that is higher than 200
Written and revised by
David Cohen, M.D.
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