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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Familial hypercholesterolemia

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* Not a rare disease
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Inheritance


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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

References
  1. Learning About Familial Hypercholesterolemia. NHGRI. March 23, 2011; http://www.genome.gov/25520184. Accessed 10/22/2013.