Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:abbreviation |
Homozygous Familial Hypercholesterolemia
|
| gptkbp:affects |
humans
|
| gptkbp:characterizedBy |
xanthomas
early onset atherosclerosis very high LDL cholesterol |
| gptkbp:diagnosedBy |
genetic testing
lipid profile |
| gptkbp:fullName |
Homozygous Familial Hypercholesterolemia
|
| https://www.w3.org/2000/01/rdf-schema#label |
HoFH
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:LDLR_gene
gptkb:APOB_gene gptkb:PCSK9_gene LDLRAP1 gene |
| gptkbp:prevalence |
1 in 160,000 to 1 in 300,000
|
| gptkbp:riskFactor |
premature cardiovascular disease
|
| gptkbp:treatment |
gptkb:PCSK9_inhibitors
gptkb:lomitapide gptkb:LDL_apheresis gptkb:ezetimibe statins mipomersen |
| gptkbp:bfsParent |
gptkb:homozygous_familial_hypercholesterolemia
|
| gptkbp:bfsLayer |
7
|