Familial Hypercholesterolemia

URI: https://gptkb.org/entity/Familial_Hypercholesterolemia

GPTKB entity

Statements (47)

Predicate	Object
gptkbp:instanceOf	genetic disorder inherited metabolic disease
gptkbp:affects	cholesterol metabolism
gptkbp:alsoKnownAs	gptkb:FH gptkb:Type_IIa_hyperlipoproteinemia
gptkbp:canBeDiagnosedIn	childhood
gptkbp:causedBy	mutations in APOB gene mutations in LDLR gene mutations in PCSK9 gene
gptkbp:characterizedBy	xanthomas corneal arcus early onset atherosclerosis high LDL cholesterol
gptkbp:complication	myocardial infarction stroke peripheral artery disease
gptkbp:diagnosedBy	genetic testing lipid profile
gptkbp:firstDescribed	gptkb:Carl_Müller 1938
gptkbp:frequency	more common in certain populations (e.g., French Canadians, Lebanese, South African Afrikaners, Ashkenazi Jews)
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
gptkbp:managedBy	lifestyle modification medication adherence dietary changes
gptkbp:MeSH_ID	D006937
gptkbp:OMIM	143890
gptkbp:prevalence	1 in 250 people worldwide
gptkbp:relatedTo	gptkb:sitosterolemia gptkb:familial_combined_hyperlipidemia gptkb:polygenic_hypercholesterolemia
gptkbp:riskFactor	coronary artery disease
gptkbp:screeningRecommendedFor	first-degree relatives
gptkbp:subspecies	gptkb:heterozygous_familial_hypercholesterolemia gptkb:homozygous_familial_hypercholesterolemia
gptkbp:symptom	premature heart disease tendon xanthomas
gptkbp:treatment	gptkb:PCSK9_inhibitors gptkb:LDL_apheresis gptkb:ezetimibe statins
gptkbp:untreatedLifeExpectancy	reduced
gptkbp:bfsParent	gptkb:FH
gptkbp:bfsLayer	6