Get Virtual Care
For Businesses
About Us
A member asked:
What causes familial hypercholesterolaemia, and why is it called a single-gene disorder?
2 doctors weighed in across 2 answers
No LDL receptors: Familial hypercholesterolemia is classically caused by a mutation in the gene for the LDL receptor. This protein sits on the surface of liver cells and sucks up the bad LDL cholesterol particles from blood. There are always 2 copies of each gene, so a mutation in one copy results in a 50% reduction in receptors & approximately twice the normal LDL level. This leads to early atherosclerosis and mi.
Answered 7/18/2013
5.1k views
Caused by abnl gene: Fh is caused by a gene mutation that leads to defective LDL (cholesterol) receptor so that the liver does not recognize chol is around and produces too much. It is monogenic ( single gene) because problem is in only 1 gene instead of multiple genes such as other disorder like diabetes.
Answered 6/25/2013
5k views
Related Questions
A member asked:
Can a genetics defect called mthfr1 cause a lot of problems a gentics told me it does not is that true or not?
A doctor has provided 1 answer
A member asked:
Would an LDL level of 172 at 28 suggest familial hypercholesterolemia? No family hx of heart disease. All grandparents lived well in to 70s & 80s.
2 doctors weighed in across 2 answers
A member asked:
Can you tell me if you've seen anyone with a genetic disorder called achondroplasia?
A doctor has provided 1 answer
A member asked:
Can you tell me about a genetic disease called apert syndrome?
A doctor has provided 1 answer
People also searched for:
I have high hypercholesterolemia. Besides a genetic problem, are there any other causes of this?
Is there something called a k ras gene that causes lung cancer?
I plan on taking a Medical course, Changes in Gene Structure is called mutations. Gene mutations cause permanent change in the Order Of DNA. is that correct?
My mother died in 1997 of a horrible disease called my cancer is it in my genes to and is it possible that I'm gonna die of it too ?
I carry a rare gene called HLRCC my scans are all good and clear however I do produce large and multiple fibroids. I have received a referral for gynaecology oncology even though I dont have cancer. What would be the reason for this?
Didn't find what you're looking for?
90,000 U.S. doctors in 147 specialties are here to answer your questions or offer you advice, prescriptions, and more.
Ask your questionMore of what we treat
Download HealthTap
Video visit and message your doctor
