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Genetic and Rare Diseases Information Center (GARD)

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Familial hypercholesterolemia


* Not a rare disease
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Your Question

I have been researching familial hypercholesterolemia. A couple of web sites have called it autosomal dominant. If I remember correctly that would mean that in order for a person to have FH, he would have to have a parent with FH. Is my thinking correct on this matter?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is familial hypercholesterolemia inherited?

Familial hypercholesterolemia (FH) is usually inherited in an autosomal dominant manner (in which case it is referred to as heterozygous FH).[1] Individuals inherit two copies of each gene (one from each parent). In an autosomal dominant condition, having only one abnormal (mutated) copy of the gene is sufficient to cause the condition. In most cases the mutated gene is inherited from an affected parent, but it is possible for the mutation to occur for the first time in the affected individual. An individual with an autosomal dominant condition has a 50% (1 in 2) chance to pass the mutation on to each of his/her children and a 50% chance to not pass on the mutation.

More rarely, familial FH may be inherited in an autosomal recessive manner. This occurs when an individual inherits a mutated copy of the gene from both parents (this is also called homozygous FH). This is a much more severe form of FH. An individual with this form of FH will always pass on a mutated copy of the gene, and therefore each of his/her children will have heterozygous FH.[1]
Last updated: 10/22/2013