Familial Hypercholesterolemia: Opportunities for Prevention ► Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)

Familial Hypercholesterolemia: Opportunities for Prevention

This week, we feature new information on familial hypercholesterolemia in our public health genomics knowledge base . Find out what public health can do to prevent morbidity and mortality from familial hypercholesterolemia .

Last Updated: Apr 02, 2016

• Phenotype diversity among patients with homozygous familial hypercholesterolemia: A cohort study.
  Raal Frederick J, et al. Atherosclerosis 2016 3
• Treatment Gaps in Adults with Heterozygous Familial Hypercholesterolemia in the United States: Data from the CASCADE-FH Registry.
  deGoma Emil M et al. Circulation. Cardiovascular genetics 2016 Mar
• Tier 1 Genomic Applications Toolkit for Public Health Departments
  Disease: Multiple Diseases; Type: Tools; State: Multiple States
• New calculations expose racial differences for inherited high cholesterol
  American Heart Association News, March 29, 2016
• Treatment Gaps in Adults with Heterozygous Familial Hypercholesterolemia in the United States: Data from the CASCADE-FH Registry
  EM DeGoma et al, Circulation CV Genetics, March 25, 2016
• An economic evaluation alongside a randomized controlled trial evaluating an individually tailored lifestyle intervention compared with usual care in people with familial hypercholesterolemia.
  Broekhuizen Karen et al. BMC research notes 2015 8317
• Communicating risk with relatives in a familial hypercholesterolemia cascade screening program: a summary of the evidence.
  Allison Melanie et al. The Journal of cardiovascular nursing 30(4) E1-E12
• Recent developments in gene therapy for homozygous familial hypercholesterolemia
  Ajufo E, et al. Current Atherosclerosis Reports, March 23, 2016
• Frequent Incidence of Familial Hypercholesterolemia Increases Heart Disease Risk,
  Cardiology Advisor, March 16, 2016
• Knowing the Prevalence of Familial Hypercholesterolemia Matters
  Goldberg AC, et al. Circulation. 2016; 133: 1054-1057
• Epigenetic and genetic variations at the TNNT1 gene locus are associated with HDL-C levels and coronary artery disease.
  Guay Simon-Pierre, et al. Epigenomics 2016 3
• The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
  Sharifi Mahtab, et al. Metabolism: clinical and experimental 2016 3 (3) 48-53
• Collecting Family History 
  Disease: Multiple Diseases; Type: Education; State: Multiple States
• Pre-Test Decisions & Counseling
  Disease: Multiple Diseases; Type: Education; State: Multiple States
• Interpreting Genetic Testing Results
  Disease: Multiple Diseases; Type: Education; State: Multiple States
• Identifying Red Flags and Patterns that Increase Risk
  Disease: Multiple Diseases; Type: Education; State: Multiple States
• Familial hypercholesterolemia: PCSK9 InsLEU genetic variant and prediabetes/diabetes risk.
  Saavedra Yascara G Luna, et al. Journal of clinical lipidology 0 0 (6) 786-793.e1
• Assessment of Subclinical Atherosclerosis Using Computed Tomography Calcium Scores in Patients with Familial and Nonfamilial Hypercholesterolemia.
  Galaska Rafal, et al. Journal of atherosclerosis and thrombosis 2015 12
• Lipoprotein(a) in Familial Hypercholesterolemia With Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Gain-of-Function Mutations.
  Tada Hayato, et al. Circulation journal : official journal of the Japanese Circulation Society 2015 12
• The distribution and characteristics of LDL receptor mutations in China: A systematic review.
  Jiang Long, et al. Scientific reports 2015 0 17272
• The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association.
  Published on 2015 by American Heart Association
• Role of rs3846662 and HMGCR alternative splicing in statin efficacy and baseline lipid levels in familial hypercholesterolemia.
  Leduc Valerie, et al. Pharmacogenetics and genomics 2015 10
• Identification and treatment of patients with homozygous familial hypercholesterolaemia: information and recommendations from a Middle East advisory panel.
  Published on 2015 by Expert panel
• [Diagnosis and treatment of familial hypercholesterolemia in Spain: Consensus document.]
  Published on 2015 by Expert panel
• Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population.
  Alharbi Khalid Khalaf, et al. Acta biochimica Polonica 2015 0 (3) 559-62
• A new tier classification: [Tier 1] - Familial hypercholesterolemia (FH) 
• [Diagnostic and treatment of familial hypercholesterolemia (FH) in adult: guidelines from the New French Society of Atherosclerosis (NSFA)].
  Published on 2013 by New French Society of Atherosclerosis
• Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum
  Published on 2013 by Polish Lipid Expert Forum
• Molecular-genetic aspects of familial hypercholesterolemia.
  Gabcova-Balaziova D, et al. Endocrine regulations 2015 0 (3) 164-81
• Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.
  Norsworthy Penny J, et al. BMC medical genetics 2014 0 70

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Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB