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My mother was diagnosed with Familial Hypercholesterolemia and I am really worried I may have it and I may have heart disease at 22 as I am having some symptoms (possible angina). However she got a genetic test and it said a gene/gene mutation could not be identified but I am unsure how to interpret this and wanted to ask what this means.


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replied January 2nd, 2019
Heart Disease and Heart Attack Answer A64718
Welcome to ehealth forum.

Familial hypercholesterolemia is a genetic disorder. It is caused by a defect on chromosome 19.
If you have FH it is likely that you have an alteration in one of three key genes: The LDL receptor gene - this gene makes a protein that helps remove cholesterol from your blood.
This condition affects about 1 in 500 people in most countries.

The defect makes the body unable to remove low density lipoprotein (LDL, or bad) cholesterol from the blood.

This results in a high level of LDL in the blood.

Common Signs and symptoms of familial hypercholesterolemia - include - chest pain with activity ; Xanthomas, which are fatty deposits often found in tendons and on the elbows, buttocks, and knees ;
along with - cholesterol deposits around the eyelids (xanthelasmas.)

Familial Hypercholesterolemia is a lifelong condition that is inherited. Therefore, it is a lot more serious than simply having high cholesterol caused from diet and it requires more aggressive treatment. FH is a life-threatening disorder.

Treatment of homozygous FH involves a combination of lifestyle changes, statin therapy, and lipoprotein apheresis, if available, and should be started as early as possible.

Hence it would be recommended to follow up with your doctor and seek proper advice

I hope this helps.


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