Familial hypercholesterolemia || Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)










Last Updated: Sep 22, 2016

• Novel Therapies for Familial Hypercholesterolemia.
  Parizo Justin et al. Current treatment options in cardiovascular medicine 2016 Nov 18(11) 64
• Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry.
  Alonso Rodrigo et al. Journal of clinical lipidology 10(4) 953-61
• Management of homozygous familial hypercholesterolemia in real-world clinical practice: A report of 7 Italian patients treated in Rome with lomitapide and lipoprotein apheresis.
  Stefanutti Claudia et al. Journal of clinical lipidology 10(4) 782-9
• Medication adherence, cascade screening, and lifestyle patterns among women with hypercholesterolemia: Results from the WomenHeart survey.
  Benson Gretchen et al. Journal of clinical lipidology 10(4) 937-43
• Children with hypercholesterolemia of unknown cause: Value of genetic risk scores.
  Sjouke Barbara, et al. Journal of clinical lipidology 0 0 (4) 851-9
• Exploring Gaps of Family History Documentation in EHR for Precision Medicine -A Case Study of Familial Hypercholesterolemia Ascertainment.
  Mehrabi Saeed et al. AMIA Joint Summits on Translational Science proceedings. AMIA Summit on Translational Science 2016 2016160-6
• The Prevalence and Prognostic Importance of Possible Familial Hypercholesterolemia in Patients with Myocardial Infarction
  S Rerup et al, AM Heart Journal, August 2016
• Lipid Screening in Childhood and Adolescence for Detection of Familial Hypercholesterolemia: Evidence Report and Systematic Review for the US Preventive Services Task Force.
  Lozano Paula et al. JAMA 2016 Aug 316(6) 645-55
• Screening for Lipid Disorders in Children and Adolescents: US Preventive Services Task Force Recommendation Statement.
  et al. JAMA 2016 Aug 316(6) 625-33
• Cost-effectiveness of PCSK9 Inhibitor Therapy in Patients With Heterozygous Familial Hypercholesterolemia or Atherosclerotic Cardiovascular Disease.
  Kazi Dhruv S et al. JAMA 2016 Aug 316(7) 743-753
• Cost-effectiveness of PCSK9 Inhibitor Therapy in Patients With Heterozygous Familial Hypercholesterolemia or Atherosclerotic Cardiovascular Disease
  DS Kazi et al, JAMA August 16, 2016
• 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 67(11) 1278-85
• Lipid Screening in Childhood and Adolescence for Detection of Familial Hypercholesterolemia- Evidence Report and Systematic Review for the US Preventive Services Task Force
  P Lozano et al, JAMA, August 9, 2016
• Why Cholesterol Testing in Children and Adolescents Matters
  SS Gidding. JAMA Cardiology, August 9, 2016
• Screening for Lipid Disorders in Children and Adolescents US Preventive Services Task Force Recommendation Statement
  USPSTF, JAMA, August 9, 2016

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

• Human (61)
• Pathogen (0)

• Human (252)
• Pathogen (0)

• Human (56)
• Pathogen (0)

• Guidelines (7)
• Tier Table (1)
• Synthesis (17)

• Huamn (52)
• Pathogen (0)

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