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A member asked:
Hi doctors. how do i know if i have a risk of familial hypercholesterolemia?
A doctor has provided 1 answer
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.
Answered 7/15/2014
3.9k views
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