Familial hypercholesterolemia NEWS ▲ Last Updated: May 27, 2016 || Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)






Last Updated: May 27, 2016

• Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia.
  Ohta Naotaka, et al. Journal of clinical lipidology 0 0 (3) 547-555.e5
• Familial hypercholesterolemia: cholesterol efflux and coronary disease.
  Versmissen Jorie et al. European journal of clinical investigation 2016 May
• Familial hypercholesterolemia presents 'terrible paradox',
  by Joshua W. Knowles, Healio, May 22, 2016
• Predictors of cardiovascular events after one year of molecular screening for Familial hypercholesterolemia.
  Silva Pãmela R S et al. Atherosclerosis 2016 May 250144-150
• Aligning policy to promote cascade genetic screening for prevention and early diagnosis of heritable diseases.
  George Rani et al. Journal of genetic counseling 2015 Jun 24(3) 388-99
• MTP Gene Variants and Response to Lomitapide in Patients with Homozygous Familial Hypercholesterolemia.
  Kolovou Genovefa D, et al. Journal of atherosclerosis and thrombosis 2016 5
• Prediction of genetic risk factors of atherosclerosis using various bioinformatic tools.
  Wang H X, et al. Genetics and molecular research : GMR 2016 0 (2)
• Genetic susceptibility to cerebrovascular disease.
  Della-Morte David et al. Current opinion in lipidology 2016 Apr 27(2) 187-95
• Identifying familial hypercholesterolemia in acute coronary syndrome.
  Gencer Baris et al. Current opinion in lipidology 2016 Apr
• Expert consensus on the rational clinical use of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors.
  Achimastos Apostolos et al. Hormones (Athens, Greece) 2016 Jan 15(1) 8-14
• Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland.
  Mickiewicz Agnieszka, et al. Atherosclerosis 2016 3 52-58
• Current familial hypercholesterolemia diagnostic criteria underdiagnose APOB mutations: Lessons from the Amish community.
  Andersen Lars et al. Journal of clinical lipidology 10(2) 443-4
• Examining barriers to cascade screening for familial hypercholesterolemia in the United States.
  Andersen Rolf et al. Journal of clinical lipidology 10(2) 225-7
• LOWER, a registry of lomitapide-treated patients with homozygous familial hypercholesterolemia: Rationale and design.
  Blom Dirk J et al. Journal of clinical lipidology 10(2) 273-82
• Prevalence of heterozygous familial hypercholesterolaemia and its impact on long-term prognosis in patients with very early ST-segment elevation myocardial infarction in the era of statins.
  Rallidis Loukianos S et al. Atherosclerosis 2016 Mar 24917-21
• Heterozygous Familial Hypercholesterolemia
  A Onorato et al, Circulation, March 2016
• Diagnostic Yield of Sequencing Familial Hypercholesterolemia Genes in Patients with Severe Hypercholesterolemia.
  Khera Amit V, et al. Journal of the American College of Cardiology 2016 3
• Examining barriers to cascade screening for familial hypercholesterolemia in the United States 
  R Andersen et al, J Clin Lipidology, April 2016
• Surprising Findings in Genetic Analysis of Familial Hypercholesterolemia Patients,
  HPCLive, April 3, 2016
• Examining barriers to cascade screening for familial hypercholesterolemia in the United States
  Andersen R, et al. Journal of Clinical Lipidology 2016 Mar-Apr
• Selection of individuals for genetic testing for familial hypercholesterolaemia: development and external validation of a prediction model for the presence of a mutation causing familial hypercholesterolaemia.
  Besseling Joost et al. European heart journal 2016 Apr
• Attainment of LDL-Cholesterol Treatment Goals in Patients With Familial Hypercholesterolemia: 5-Year SAFEHEART Registry Follow-Up.
  Perez de Isla Leopoldo et al. Journal of the American College of Cardiology 2016 Mar (11) 1278-85
• 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
• 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
• 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
• Recent developments in gene therapy for homozygous familial hypercholesterolemia
  Ajufo E, et al. Current Atherosclerosis Reports, March 23, 2016

• CDC Information (4)
• CDC-Authored Pub (1)

• Human (249)
• Pathogen (0)

• Human (45)
• Pathogen (0)

• Guidelines (8)
• Tier Table (1)
• Synthesis (12)

• Implementation (100)

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