AllRefer Health - Familial Hypercholesterolemia Diagnosis & Tests (Hypercholesterolemic Xanthomatosis, Low Density Lipoprotein Receptor Mutation, Type II Hyperlipoproteinemia)

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You are here : AllRefer.com > Health > Diseases & Conditions > Familial Hypercholesterolemia: Diagnosis, Tests, & Signs of Familial Hypercholesterolemia

Familial Hypercholesterolemia


•	Definition
•	Overview, Causes, & Risk Factors
•	Symptoms & Signs
•	Prevention
•	Diagnosis & Tests
•	Treatment
•	Expectations or Prognosis
•	Complications
•	Support Groups
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Alternate Names : Hypercholesterolemic Xanthomatosis, Low Density Lipoprotein Receptor Mutation, Type II Hyperlipoproteinemia

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Diagnosis & 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
studies of heart function, such as a stress test, may be abnormal
special studies of patient cells (fibroblasts) may show decreased uptake of LDL cholesterol
genetic testing for mutations in the LDL receptor gene

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• Definition
• Overview, Causes, & Risk Factors
• Symptoms & Signs
• Prevention
• Diagnosis & Tests
• Treatment
• Prognosis
• Complications
• Support Groups
• Calling Your Health Care Provider
• Pictures & Images

Review Date : 8/21/2003
Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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