KEGG   DISEASE: Familial hypercholesterolemia
Entry
H00155                      Disease                                
Name
Familial hypercholesterolemia;
Autosomal dominant hypercholesterolaemia
  Subgroup
Familial autosomal recessive hypercholesterolemia [DS:H01918]
  Supergrp
Hyperlipidemia [DS:H01635]
Description
Familial hypercholesterolaemia (FHCL) is an autosomal dominant disorder caused by deficiency of low density lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation of APOB or PCSK9 gene. This disorder is characterized by severely elevated plasma LDL cholesterol, tuberous and tendon xanthomata, and premature atherosclerosis. Patients have a significantly elevated risk of early coronary heart disease.
Category
Inherited metabolic disease; Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00155  Familial hypercholesterolemia
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of lipoprotein metabolism or certain specified lipidaemias
    5C80  Hyperlipoproteinaemia
     H00155  Familial hypercholesterolemia
Related
pathway
hsa04979  Cholesterol metabolism
hsa04975  Fat digestion and absorption
Network
nt06320  APOB-LDLR signaling
Gene
(FHCL1) LDLR [HSA:3949] [KO:K12473]
(FHCL1) EPHX2 [HSA:2053] [KO:K08726]
(FHCL1) GHR [HSA:2690] [KO:K05080]
(FHCL1) PPP1R17 [HSA:10842] [KO:K08067]
(FHCL1) APOA2 [HSA:336] [KO:K08758]
(FHCL2) APOB [HSA:338] [KO:K14462]
(FHCL3) PCSK9 [HSA:255738] [KO:K13050]
(FHCL4) LDLRAP1 [HSA:26119] [KO:K12474]
Drug
Simvastatin [DR:D00434]
Pravastatin sodium [DR:D00893]
Fluvastatin sodium [DR:D00892] (Heterozygous familial)
Atorvastatin calcium [DR:D02258]
Rosuvastatin calcium [DR:D01915]
Ezetimibe [DR:D01966]
Mipomersen sodium [DR:D08946]
Lomitapide mesylate [DR:D09638]
Evolocumab [DR:D10557]
Alirocumab [DR:D10335]
Bempedoic acid [DR:D10691]
Inclisiran [DR:D11931]
Inclisiran sodium [DR:D12293]
Evinacumab [DR:D11753]
Niacin and lovastatin [DR:D10292]
Ezetimibe and simvastatin [DR:D10257]
Bempedoic acid and ezetimibe [DR:D11794]
Ezetimibe and rosuvastatin [DR:D11520]
Other DBs
ICD-11: 5C80.00
ICD-10: E78.0
MeSH: D006937
OMIM: 143890 144010 603776 603813
Reference
  Authors
Humphries SE, Norbury G, Leigh S, Hadfield SG, Nair D
  Title
What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?
  Journal
Curr Opin Lipidol 19:362-8 (2008)
DOI:10.1097/MOL.0b013e32830636e5
Reference
  Authors
Newson AJ, Humphries SE
  Title
Cascade testing in familial hypercholesterolaemia: how should family members be contacted?
  Journal
Eur J Hum Genet 13:401-8 (2005)
DOI:10.1038/sj.ejhg.5201360
Reference
  Authors
Hadfield SG, Humphries SE
  Title
Implementation of cascade testing for the detection of familial hypercholesterolaemia.
  Journal
Curr Opin Lipidol 16:428-33 (2005)
DOI:10.1097/01.mol.0000174152.76554.d6
Reference
PMID:11389828 (LDLR)
  Authors
Koivisto UM, Hubbard AL, Mellman I
  Title
A novel cellular phenotype for familial hypercholesterolemia due to a defect in polarized targeting of LDL receptor.
  Journal
Cell 105:575-85 (2001)
DOI:10.1016/s0092-8674(01)00371-3
Reference
PMID:14673705 (EPHX2)
  Authors
Sato K, Emi M, Ezura Y, Fujita Y, Takada D, Ishigami T, Umemura S, Xin Y, Wu LL, Larrinaga-Shum S, Stephenson SH, Hunt SC, Hopkins PN
  Title
Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred.
  Journal
J Hum Genet 49:29-34 (2004)
DOI:10.1007/s10038-003-0103-6
Reference
PMID:12910492 (GHR)
  Authors
Takada D, Ezura Y, Ono S, Iino Y, Katayama Y, Xin Y, Wu LL, Larringa-Shum S, Stephenson SH, Hunt SC, Hopkins PN, Emi M
  Title
Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred.
  Journal
Am J Med Genet A 121A:136-40 (2003)
DOI:10.1002/ajmg.a.20172
Reference
PMID:12955585 (PPP1R17)
  Authors
Ono S, Ezura Y, Emi M, Fujita Y, Takada D, Sato K, Ishigami T, Umemura S, Takahashi K, Kamimura K, Bujo H, Saito Y
  Title
A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia.
  Journal
J Hum Genet 48:447-450 (2003)
DOI:10.1007/s10038-003-0055-x
Reference
PMID:12522687 (APOA2)
  Authors
Takada D, Emi M, Ezura Y, Nobe Y, Kawamura K, Iino Y, Katayama Y, Xin Y, Wu LL, Larringa-Shum S, Stephenson SH, Hunt SC, Hopkins PN
  Title
Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.
  Journal
J Hum Genet 47:656-64 (2002)
DOI:10.1007/s100380200101
Reference
PMID:10952765 (APOB)
  Authors
Saint-Jore B, Varret M, Dachet C, Rabes JP, Devillers M, Erlich D, Blanchard P, Krempf M, Mathe D, Chanu B, Jacotot B, Farnier M, Bonaiti-Pellie C, Junien C, Boileau C
  Title
Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
  Journal
Eur J Hum Genet 8:621-30 (2000)
DOI:10.1038/sj.ejhg.5200516
Reference
PMID:12730697 (PCSK9)
  Authors
Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derre A, Villeger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C
  Title
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
  Journal
Nat Genet 34:154-6 (2003)
DOI:10.1038/ng1161
Reference
PMID:12016260 (LDLRAP1)
  Authors
Al-Kateb H, Bahring S, Hoffmann K, Strauch K, Busjahn A, Nurnberg G, Jouma M, Bautz EK, Dresel HA, Luft FC
  Title
Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.
  Journal
Circ Res 90:951-8 (2002)
DOI:10.1161/01.res.0000018002.43041.08
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