Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic disorder, genetic testing is rarely used. The Familial Hypercholesterolemia Foundation convened an international expert panel to assess the utility of FH genetic testing. The rationale includes the following: 1) facilitation of definitive diagnosis; 2) pathogenic variants indicate higher cardiovascular risk, which indicates the potential need for more aggressive lipid lowering; 3) increase in initiation of and adherence to therapy; and 4) cascade testing of at-risk relatives. The Expert Consensus Panel recommends that FH genetic testing become the standard of care for patients with definite or probable FH, as well as for their at-risk relatives. Testing should include the genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9); other genes may also need to be considered for analysis based on patient phenotype. Expected outcomes include greater diagnoses, more effective cascade testing, initiation of therapies at earlier ages, and more accurate risk stratification.
- Klíčová slova
- cascade testing, consensus statement, familial hypercholesterolemia, genetic counseling, genetic testing,
- MeSH
- apolipoproteiny B krev genetika MeSH
- genetické poradenství metody normy MeSH
- genetické testování metody normy MeSH
- hyperlipoproteinemie typ II krev diagnóza genetika MeSH
- lidé MeSH
- proproteinkonvertasa subtilisin/kexin typu 9 krev genetika MeSH
- receptory LDL krev genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Názvy látek
- apolipoproteiny B MeSH
- LDLR protein, human MeSH Prohlížeč
- PCSK9 protein, human MeSH Prohlížeč
- proproteinkonvertasa subtilisin/kexin typu 9 MeSH
- receptory LDL MeSH
