Clinical Genetic Testing for Familial Hypercholesterolemia

Kód výsledku v 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>

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Clinical Genetic Testing for Familial Hypercholesterolemia

Popis výsledku v původním jazyce

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,

Název v anglickém jazyce

Clinical Genetic Testing for Familial Hypercholesterolemia

Popis výsledku anglicky

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,

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30201 - Cardiac and Cardiovascular systems

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2018

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of the American College of Cardiology

ISSN

0735-1097

e-ISSN

—

Svazek periodika

72

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

19

Strana od-do

662-680

Kód UT WoS článku

000440157200011

EID výsledku v databázi Scopus

2-s2.0-85050353019