Familial hypercholesterolemia
- Synonyms
- Familial hypercholesterolemias
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Hannah E Ison
- Shoa L Clarke
- Joshua W Knowles
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Genes See tests for all associated and related genes
Also known as: FCHL2, FLDB, LDLCQ4, apoB-100, apoB-48, APOB
Summary: apolipoprotein BAlso known as: FH, FHC, FHCL1, LDLCQ2, LDLR
Summary: low density lipoprotein receptorAlso known as: FH3, FHCL3, HCHOLA3, LDLCQ1, NARC-1, NARC1, PC9, PCSK9
Summary: proprotein convertase subtilisin/kexin type 9
- NICE, 2023UK NICE Guideline NG238, Cardiovascular disease: risk assessment and reduction, including lipid modification, 2023
- ACMG ACT, 2019American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, APOB, LDLR, PCSK9 Pathogenic Variants (Familial Hypercholesterolemia), 2019
- CSANZ, 2016The Cardiac Society of Australia and New Zealand, Diagnosis and Management of Familial Hypercholesterolaemia – Position Statement
- NICE, 2019National Institute for Health and Clinical Excellence, Identification and management of familial hypercholesterolaemia, 2008 [Updated: 4 October 2019]
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