13 doctors weighed in:

Do doctors know what causes familial hypercholesterolemia?

13 doctors weighed in
Dr. Bradley Radwaner
Internal Medicine - Cardiology
11 doctors agree

In brief: 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.

In brief: 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.
Dr. Bradley Radwaner
Dr. Bradley Radwaner
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Dr. James Underberg
Internal Medicine
1 doctor agrees

In brief: 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.

In brief: 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.
Dr. James Underberg
Dr. James Underberg
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Dr. William Cromwell
Clinical Lipidology

In brief: 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.

In brief: 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.
Dr. William Cromwell
Dr. William Cromwell
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Dr. Zahid Ahmad
Internal Medicine - Endocrinology

In brief: 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.

In brief: 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.
Dr. Zahid Ahmad
Dr. Zahid Ahmad
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