Clinical Genetic Testing for Familial Hypercholesterolemia

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F18%3A00105804" target="_blank" >RIV/00216224:14740/18:00105804 - isvavai.cz</a>
Result on the web
<a href="https://www.sciencedirect.com/science/article/pii/S0735109718350654?via%3Dihub" target="_blank" >https://www.sciencedirect.com/science/article/pii/S0735109718350654?via%3Dihub</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jacc.2018.05.044" target="_blank" >10.1016/j.jacc.2018.05.044</a>

Result language
angličtina
Original language name
Clinical Genetic Testing for Familial Hypercholesterolemia
Original language description
Although awareness of familial hypercholesterolemia (FH) increasing, this common, potentially fatal, treatable condition emains underdiagnosed, Despite FH being a genetic disorder, genetic testing is rarely used. The Familial. Hypercholeserolemia 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 (PCS10); other genes may also need to be considered for analysis based on patient phenotype. Expected outcomes nclude greater diagnoses, more effective cascade testing, initiation of therapies at earlier ages, and more accurate risk ratification. (C) 2018 by the American College of Cardiology Foundation,
Czech name
—
Czech description
—

Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30201 - Cardiac and Cardiovascular systems

Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Similar results(10)