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Doctor insights on: Familial Hypercholesterolemia

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Dr. James Underberg
22 doctors shared insights

Familial Hypercholesterolemia (Overview)

Familial hypercholesterolemia is an inherited disorder of high LDL cholesterol (bad cholesterol). The condition begins at birth and can cause atherosclerosis and heart attacks at an early age. It is caused by a defect on chromosome 19.


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How do I find out if I have familial hypercholesterolemia?

How do I find out if I have familial hypercholesterolemia?

Tests: You should the discuss the matter with your doctor as it may require performing multiple tests, in succession on you and your family members. The first one would be to have blood lipids tested in fasting state and depending on those results, other tests and tests on family members may be needed. Confirmation of the diagnosis may require molecular testing. ...Read more

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Dr. James Underberg
22 doctors shared insights

Familial Hypercholesterolemia (Overview)

Familial hypercholesterolemia is an inherited disorder of high LDL cholesterol (bad cholesterol). The condition begins at birth and can cause atherosclerosis and heart attacks at an early age. It is caused by a defect on chromosome 19.


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Do you have to have cardiovascular diseases if you have familial hypercholesterolemia? What are all the symptoms?

Do you have to have cardiovascular diseases if you have familial hypercholesterolemia? What are all the symptoms?

Familial: Hypercholesterolemia is a predisposing factor for cardiovascular disease together with hypertension , diabetes , smoking and other factors . This is not to say that all people with this condition will develop cardiovascular disease . Treatment of the condition in different form will reduce the risk significantly . Talk to your doctor and know your risk and take action. ...Read more

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Does anyone know how familial hypercholesterolemia is diagnosed?

Lipid testing: A simple blood test will help your doctor determine whether you have a genetic disorder that makes it difficult for your body to maintain normal levels of cholesterol and triglycerides. ...Read more

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Do doctors know what causes familial hypercholesterolemia?

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. ...Read more

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What dot ventricular hypertrophy, and familial hypercholesterolemia mean?

Two separate : Entities. Ventricular hypertrophy and hypercholesterolemia are usually not related. Hyper-cholestrolemia causes heart disease and ventricular hypertrophy may end up in heart failure. Please be more specific in your question. ...Read more

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I have familial hypercholesterolemia but want to put on muscle in the gym. Are there any supplements i can take that wont effect my statin treatment?

I have familial hypercholesterolemia but want to put on muscle in the gym. Are there any supplements i can take that wont effect my statin treatment?

Sure: I'm really glad you're getting the cholesterol treated. Before statins, one of my colleagues died at your age from this illness. For muscling up, creatine and an electronic muscle stimulator (if your phsician is okay with the latter) are your best friends. Other supplements are less likely to help. Avoid steroids -- I've been around gyms for decades & most who try them are sorry. Cheers. ...Read more

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Is there a way to prevent my children from inheriting familial hypercholesterolemia?

Is there a way to prevent my children from inheriting familial hypercholesterolemia?

Prevention: You can't prevent the inheritance of hypercholesterolemia because it is genaticicallty determined but your children can be treated with statins to control their cholesterol level. ...Read more

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Can I go to a genetic counselor to see if I have familial hypercholesterolemia?

Can I go to a genetic counselor to see if I have familial hypercholesterolemia?

Physician is better: Genetic counselors are master's trained individuals trained to collect and interpret family histories but with little clinical experience. You should see your family practitioner or internist and have a lipid profile. Familial hypercholesterolemia would be indicated by a very high cholesterol, and your family history may show other people with early heart attacks/strokes who need lipid studies. ...Read more

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Hi Doctors. How do I know if I have a risk of familial hypercholesterolemia?

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 have 1 good copy and 1 mutant copy, you're heterozygous and have elevated LDL and premature atherosclerosis. If you have 2 bad copies, you're homozygous recessive, and have very aggressive atherosclerosis at a young age. There is gene testing. ...Read more

Dr. Louis Gallia
8 doctors shared insights

High Cholesterol (Definition)

Cholesterol, a fat made by all our cells, has never been the correct issue but was promoted because (as a fat within all lipoprotein particles) it was cheaper to measure & if very high (esp. Fasting) tended to correlate with high LDL particle concentrations. In the later 1970's lipoprotein measurements cost $5, 000/sample. The NMR particle test, <$100, brought the LDL costs way ...Read more


Dr. Maureen Mays
1,022 doctors shared insights

Hypercholesterolemia (Definition)

Hypercholesterolemia is the condition of having a high cholesterol ...Read more