A 27-year-old member asked:
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do doctors know what causes familial hypercholesterolemia?

4 doctor answers
Dr. Bradley Radwaner
41 years experience Cardiology
Yes: Ldl liver receptors normally grab onto the cholesterol in the blood stream, dump the cholesterol into the bile and thus lower the blood cholesterol level..In familial hypercholesterolemia there is a much lower number of these receptors so the blood cholesterol level is very high allowing the cholesterol to be deposited in blood vessels causing the deposits leading to heart attacks and strokes.
Answered on Nov 28, 2017
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Dr. Zahid Ahmad
17 years experience Endocrinology
Yes: In most cases, familial hypercholesterolemia is caused by mutations in one of three known genes (ldlr, apob, or pcsk9). It is a genetic disorder.
Answered on Jul 27, 2012
Dr. William Cromwell
34 years experience Clinical Lipidology
Yes: Familial hypercholesterolemia (fh) results from decreased clearance of LDL particles from the blood. Three different abnormalities are know to cause fh - abnormal LDL receptor function (over 1, 600 individual defects noted to date), defective apob100 (ldl particles cannot bind to normal LDL receptors), and high pcsk9 (protein that limits LDL receptor function). Ldl receptor defects are most common.
Answered on Dec 8, 2012
Dr. James Underberg
35 years experience Internal Medicine
Less Disposal of LDL: Familial hypercholesterolemia (fh) is caused by decreased production or abnormal functioning of the LDL receptors on the surface of liver cells that clear LDL from the bloodstream. This leads to increased production of cholesterol in the liver, and very high total and LDL cholesterol levels, and early heart disease. For more info, go to www.Learnyourlipids.Com or www.Thefhfoundation.Org.
Answered on Jan 14, 2014
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Dr. Thomas Knecht
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Screen lipid panel: Hi Familial hypercholesterolemia is a defect in the LDL receptor gene. You have 2 copies of the gene: 1 from your mom & 1 from your dad. If you h ... Read More
A 38-year-old member asked:
Dr. Bennett Werner
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No difference: There's no difference. Some electronic medical records use the term "pure hypercholesterolemia" which is, in my book, meaningless.
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A 36-year-old member asked:
Dr. Gurmukh Singh
49 years experience Pathology
Blood test: Lab test on blood specimen drawn after an overnight fast is sufficient to diagnose high cholesterol.
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