familial hypercholesterolemia

URI: https://gptkb.org/entity/familial_hypercholesterolemia
GPTKB entity
Statements (38)
Predicate Object
gptkbp:instanceOf genetic disorder
autosomal dominant disease
gptkbp:affects cholesterol metabolism
gptkbp:alternativeName hypercholesterolemia
gptkbp:cause myocardial infarction at young age
premature cardiovascular disease
gptkbp:characterizedBy xanthomas
corneal arcus
early onset atherosclerosis
high LDL cholesterol
gptkbp:diagnosedBy genetic testing
lipid profile
gptkbp:firstDescribed gptkb:Carl_Müller
1938
gptkbp:frequency most common monogenic disorder of lipid metabolism
https://www.w3.org/2000/01/rdf-schema#label familial hypercholesterolemia
gptkbp:ICD-10_code E78.0
gptkbp:inheritance autosomal dominant
gptkbp:inheritsFrom autosomal dominant trait
gptkbp:MeSH_ID D006937
gptkbp:mutationAssociatedWith gptkb:LDLR_gene
gptkb:APOB_gene
gptkb:PCSK9_gene
gptkbp:OMIM 143890
gptkbp:prevalence 1 in 250 people
gptkbp:riskFactor coronary artery disease
gptkbp:subspecies gptkb:heterozygous_familial_hypercholesterolemia
gptkb:homozygous_familial_hypercholesterolemia
gptkbp:treatment gptkb:PCSK9_inhibitors
gptkb:LDL_apheresis
gptkb:ezetimibe
statins
gptkbp:bfsParent gptkb:Lipitor
gptkb:Vytorin
gptkb:Zetia
gptkb:Zocor
gptkb:Lescol
gptkbp:bfsLayer 5