Genotypes for familial hypercholesterolemia

Clinical syndrome	Genetic cause
Homozygous familial hypercholesterolemia (Ho-FH)
Homozygosity	The same pathogenic variant at both alleles of one of the FH genes (LDLR, APOB, or PCSK9*)
Compound heterozygosity	A different pathogenic variant at each allele of one of the FH genes
Double heterozygosity	A pathogenic variant at one allele of one FH gene and one allele of a different FH gene
Heterozygous familial hypercholesterolemia (He-FH)
	Pathogenic variant at one allele of LDLR, APOB, or PCSK9*

Refer to UpToDate for more information on the genetics of FH and other hereditary lipid disorders, which include severe polygenic hypercholesterolemia (phenocopies heterozygous FH), autosomal recessive hypercholesterolemia due to pathogenic variants at both alleles of the LDLRAP1 gene, and others.

FH: familial hypercholesterolemia; LDLR: low density lipoprotein receptor; APOB: apolipoprotein B; PCSK9: proprotein convertase, subtilisin/kexin-type 9; LDLRAP1: low density lipoprotein receptor adaptor protein 1; APOE: apolipoprotein E.
* Pathogenic variants in PCSK9 are often gain-of-function mutations and are often associated with more severe disease. Rarely, other genes may be responsible for FH, such as APOE.

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Genotypes for familial hypercholesterolemia