Last Posted: Jan-06-2017 0PM
Familial Hypercholesterolemia expanded expanded
Last Posted: Jan 06, 2017
- Younger Adults With Severe Dyslipidemia Less Likely to Be Prescribed Statins
TCTMD, January 5, 2017 - Rate of Statin Prescription in Younger Patients With Severe Dyslipidemia
SG Al-Kindi et al, JAMA Cardiology, January 4, 2017 - An Evidence-Based Guide to Cholesterol-Lowering Guidelines.
Waters David D et al. The Canadian journal of cardiology 2016 Oct - Eligibility for PCSK9 treatment in 734 Hypercholesterolemic patients referred to a regional cholesterol treatment center with LDL cholesterol ≥ 70 mg/dl despite maximal tolerated cholesterol lowering therapy.
Glueck Charles J et al. Lipids in health and disease 2016 Mar 1555 - Familial Hypercholesterolemia: Awareness, Appraisal, and Action.
Genest Jacques et al. The Canadian journal of cardiology 2016 Nov - Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
Abul-Husn Noura S et al. Science (New York, N.Y.) 2016 Dec 354(6319) - Old challenges and new opportunities in the clinical management of heterozygous familial hypercholesterolemia (HeFH): The promises of PCSK9 inhibitors.
Arca Marcello et al. Atherosclerosis 2016 Sep - Geisinger and Regeneron study finds life-threatening genetic disorder is substantially underdiagnosed
Geisinger Health System, December 22, 2016 - Genetic identification of familial hypercholesterolemia within a single U.S. health care system
NS Abul-Husn et al, Science, December 23, 2016 - Knowing the Prevalence of Familial Hypercholesterolemia Matters.
Goldberg Anne C et al. Circulation 2016 Mar 133(11) 1054-7 - Letter by Paton Regarding Article, "Knowing the Prevalence of Familial Hypercholesterolemia Matters".
Paton David M et al. Circulation 2016 Jul 134(3) e17-8 - Attainment of LDL Cholesterol Treatment Goals in Children and Adolescents With Familial Hypercholesterolemia. The SAFEHEART Follow-up Registry.
Saltijeral Adriana et al. Revista espanola de cardiologia (English ed.) 2016 Nov - A novel approach to screening for familial hypercholesterolemia in a large public venue.
Campbell Megan et al. Journal of community genetics 2016 Nov - A qualitative study of patients' perceptions of the value of molecular diagnosis for familial hypercholesterolemia (FH).
Hallowell Nina et al. Journal of community genetics 2016 Nov - The prevalence and prognostic importance of possible familial hypercholesterolemia in patients with myocardial infarction.
Rerup Sofie Aagaard et al. American heart journal 2016 Nov 18135-42 - The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.
Jiang Long et al. Scientific reports 2016 Nov 636823
From CDC Information Database
This database includes general CDC public health information on specific diseases and health related topics. When available, the database displays genomic information from various CDC web pages. Users are also encouraged to conduct searches of CDC website for additional information.
- What Gets Measured Gets Done: Public Health Progress in Familial Hypercholesterolemia
J Knowles and MJ Khoury, CDC Blog Post, November 9, 2016 - Genomics and Heart Disease
- Toolkit Information on Familial Hypercholesterolemia
- Public Health Genomics in Action: Reducing Morbidity and Mortality from Familial
- Cascade screening for Familial Hypercholesterolemia
From CDC-Authored Genomics Publication Database
This database contains CDC-authored publications in public health genomics including infectious diseases, newborn screening, reproductive health, genetic testing, cancer, chronic diseases, birth defects and developmental disabilities, environmental and occupational health as well as laboratory, bioinformatics and statistical methods.
- Reducing the burden of disease and death from familial hypercholesterolemia: a call to action.
Knowles Joshua W et al. Am. Heart J. 2014 Dec 168(6) 807-11
From Implementation Database
This database focuses on state and national activities that integrate genomics into public health programs and clinical practice
- Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?
[Disease: Familial Hypercholesterolemia; Type: Data|Program; State: Multiple States] - Tier 1 Genomic Applications Toolkit for Public Health Departments
[Disease: Multiple Diseases; Type: Tools; State: Multiple States] - WISEWOMAN
[Disease: Stroke|Familial Hypercholesterolemia|Heart Disease; Type: Program; State: Multiple States] - Statewide Screening of Fifth Graders Leads to Identification and Treatment of Those With Genetic Predisposition to Early-Onset Heart Disease
[Disease: Heart Disease|Familial Hypercholesterolemia|Stroke; Type: Data|Program; State: West Virginia] - Addressing Familial Hypercholesterolemia
[Disease: Familial Hypercholesterolemia|Heart Disease|Stroke; Type: Education; State: West Virginia]
From Guideline Database
This database contains updated guidelines, policies and recommendations on genomic research and practice, as provided by professional organizations, federal advisory groups, expert panels and policy groups.
- The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association.
Published 2015 (American Heart Association) - Identification and treatment of patients with homozygous familial hypercholesterolaemia: information and recommendations from a Middle East advisory panel.
Published 2015 (Expert panel) - [Diagnosis and treatment of familial hypercholesterolemia in Spain: Consensus document.]
Published 2015 (Expert panel) - Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum
Published 2013 (Polish Lipid Expert Forum) - Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.
Published 2014 (Polish Lipid Expert Forum)
From Tier Table Database
CDC Office of Public Health Genomics (OPHG) conducts horizon scanning (a systematic research method to find and follow novel technologies appearing in the literature) to identify and track the progress of genomic tests as they move from research into clinical and public health practice. As an aid in organizing horizon scanning results, OPHG ranks genomic tests, and family health history applications, by levels of evidence. See detail.
| Disease/Disorder | Test to be Assessed | Intended Use | Tier Classified | Detail |
|---|---|---|---|---|
| Familial hypercholesterolemia (FH) | DNA testing and LDL-C concentration measurement | Cascade testing of relatives of people diagnosed with FH | Tier 1  |
From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology
- Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.
Atherosclerosis 2016 Dec 255 31-36.
Setia Nitika, Saxena Renu, Arora Anjali, Verma Ishwar - Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
Circulation. Cardiovascular genetics 2016 Oct .
Sánchez-Hernández Rosa M, Civeira Fernando, Stef Marianne, Perez-Calahorra Sofía, Almagro Fátima, Plana Nuria, Novoa Francisco J, Sáenz-Aranzubía Pedro, Mosquera Daniel, Soler Cristina, Fuentes Francisco J, Brito-Casillas Yeray, Real José T, Blanco-Vaca Francisco, Ascaso Juan F, Pocoví Migu - MTP Gene Variants and Response to Lomitapide in Patients with Homozygous Familial Hypercholesterolemia.
Journal of atherosclerosis and thrombosis 2016 May .
Kolovou Genovefa D, Kolovou Vana, Papadopoulou Anna, Watts Gerald - Predictors of cardiovascular events after one year of molecular screening for Familial hypercholesterolemia.
Atherosclerosis 2016 May 250 144-150.
Silva Pãmela R S, Jannes Cinthia E, Marsiglia Julia D C, Krieger Jose E, Santos Raul D, Pereira Alexandre - Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland.
Atherosclerosis 2016 Mar 249 52-58.
Mickiewicz Agnieszka, Chmara Magdalena, Futema Marta, Fijalkowski Marcin, Chlebus Krzysztof, Galaska Rafa?, Bandurski Tomasz, Pajkowski Marcin, Zuk Monika, Wasag Bartosz, Limon Janusz, Rynkiewicz Andrzej, Gruchala Marc
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