Genetic Testing and Risk Scores: Impact on Familial Hypercholesterolemia
نویسندگان
چکیده
منابع مشابه
Genetic Testing for Heterozygous Familial Hypercholesterolemia
Genetic testing to confirm a diagnosis of familial hypercholesterolemia (FH) may be considered MEDICALLY NECESSARY when a definitive diagnosis is required as an eligibility criterion for specialty medications and when the following criteria are met: Genetic testing is targeted to individuals who are in an uncertain category according to clinical criteria (personal and family history, physical...
متن کاملGenetic Testing for Heterozygous Familial Hypercholesterolemia
Patient Selection Criteria Coverage eligibility for genetic testing to confirm a diagnosis of familial hypercholesterolemia (FH) will be met when: Genetic testing is targeted to individuals who are in an uncertain category according to clinical criteria (personal and family history, physical exam, lipid levels), AND Alternative treatment considerations are in place for individuals who have ...
متن کاملGenetic Analysis of Iranian Patients with Familial Hypercholesterolemia
Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iran...
متن کاملGenetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing
Familial hypercholesterolemia (FH) is a genetic disorder with an increased risk of early-onset coronary artery disease. Although some clinically diagnosed FH cases are caused by mutations in LDLR, APOB, or PCSK9, mutation detection rates and profiles can vary across ethnic groups. In this study, we aimed to provide insight into the spectrum of FH-causing mutations in Koreans. Among 136 patients...
متن کاملGenetic determinants of cardiovascular disease risk in familial hypercholesterolemia.
OBJECTIVE To investigate the contribution of polymorphisms in multiple candidate genes to cardiovascular disease (CVD) risk in a large cohort of patients with heterozygous familial hypercholesterolemia (FH). METHODS AND RESULTS We genotyped 1940 FH patients for 65 polymorphisms in 36 candidate genes. During 91.451 person-years, 643 (33.1%) patients had at least 1 cardiovascular event. Multifa...
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ژورنال
عنوان ژورنال: Frontiers in Cardiovascular Medicine
سال: 2019
ISSN: 2297-055X
DOI: 10.3389/fcvm.2019.00005