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How is genetic testing for familial hypercholesterolemia done?

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Posted on Fri, 29 Jul 2016
Question: How can I order a familial hypercholesterolaemia generic test? Companies like walkinlab and directlabs don't seem to carry it.
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Answered by Dr. Ilir Sharka (3 hours later)
Brief Answer:
I would explain as follows:

Detailed Answer:
Hello!

Welcome and thank you for asking on HCM!

Regarding your concern, I would explain that this testing is not performed in normal labs.

It is performed by special hospital centers, who deal with molecular biology and genetic disorders.

You should check for a similar center in your country and discuss with your doctor for a recommendation.

Do you have any family history for dyslipidemia at a young age or coronary artery disease, or stroke? This would be indicative of a possible genetic disorder related to dyslipidemia.

Hope you will find this answer helpful!

Kind regards,

Dr. Iliri
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Follow up: Dr. Ilir Sharka (22 hours later)
My grandfather on my dad's side died of heart attack in his 50's. Don't you find my numbers abnormally high? I exercise, don't eat saturated fats, and don't eat too much. Weight, body composition, and other indicators are excellent.
doctor
Answered by Dr. Ilir Sharka (2 hours later)
Brief Answer:
I would explain as follows:

Detailed Answer:
Hello again!

Yes, I agree with your that your blood lipid profile is really abnormal. Your weight and your lifestyle do not justify those values.

Considering your blood lipid profile and your family history, I would recommend consulting with an internist and discussing in a possible genetic test for dyslipidemia.

Best wishes,

Dr. Iliri
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Follow up: Dr. Ilir Sharka (9 hours later)
Thanks. Based on my research even if I have familial hypercholesterolaemia the general treatment is statins. Is that right?

I've been reading about other potential things to try and I've read about iodine deficiency / thyroid issues as a root cause. I haven't gotten iodine/thyroid tests but will do that soon. I eat a lot of fish and seafood regularly though.

Any other ideas I could try before I find the doctor who can help me arrange the test? I'm traveling so earliest I can start the process is mid-August.
doctor
Answered by Dr. Ilir Sharka (14 hours later)
Brief Answer:
I would recommend as follows:

Detailed Answer:
Hello again!

Yes, statins are the main treatment in such cases.

I would recommend starting rosuvastatine 20mg daily (you can raise the dose gradually up to 40mg daily) in order to help you reduce your cholesterol levels.

I recommend also continuing on your healthy diet and take plenty of omega 3 rich food:

-wallnuts
-fish and fish oil
-olive oil
-flaxseed, etc..

A lot of physical activity (aerobics and walking) is also helpful in reducing your cholesterol levels.

Hope to have been helpful!

Regards,

Dr. Iliri

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Answered by
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Dr. Ilir Sharka

Cardiologist

Practicing since :2001

Answered : 4714 Questions

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How is genetic testing for familial hypercholesterolemia done?

Brief Answer: I would explain as follows: Detailed Answer: Hello! Welcome and thank you for asking on HCM! Regarding your concern, I would explain that this testing is not performed in normal labs. It is performed by special hospital centers, who deal with molecular biology and genetic disorders. You should check for a similar center in your country and discuss with your doctor for a recommendation. Do you have any family history for dyslipidemia at a young age or coronary artery disease, or stroke? This would be indicative of a possible genetic disorder related to dyslipidemia. Hope you will find this answer helpful! Kind regards, Dr. Iliri