Familial Hypercholesterolemia

Public Health Genomics Knowledge Base (v1.2)

 Familial Hypercholesterolemiacollapsed collapsed

Test cholesterol of one-year-olds to prevent early heart attacks, study suggests 
The Guardian, October 26, 2016

What Should Be the Screening Strategy for Familial Hypercholesterolemia
BW McCrindle et al, NEJM, October 26, 2016

Child–Parent Familial Hypercholesterolemia Screening in Primary Care
DS Wald et al, NEJM, October 26, 2016

More information on this topic

Last Updated: Oct 28, 2016

• Test cholesterol of one-year-olds to prevent early heart attacks, study suggests 
  The Guardian, October 26, 2016
• Child–Parent Familial Hypercholesterolemia Screening in Primary Care
  DS Wald et al, NEJM, October 26, 2016
• What Should Be the Screening Strategy for Familial Hypercholesterolemia
  BW McCrindle et al, NEJM, October 26, 2016
• Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
  Wald David S et al. The New England journal of medicine 2016 Oct 375(17) 1628-1637
• The panorama of familial hypercholesterolemia in Latin America: a systematic review.
  Mehta Roopa et al. Journal of lipid research 2016 Oct
• Universal Cholesterol Screening in Childhood: A Systematic Review.
  Smith Anna Jo et al. Academic pediatrics 16(8) 716-725
• What Should Be the Screening Strategy for Familial Hypercholesterolemia?
  McCrindle Brian W et al. The New England journal of medicine 2016 Oct 375(17) 1685-1686
• Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
  Brænne Ingrid et al. European journal of human genetics : EJHG 2016 Feb 24(2) 191-7
• Familial hypercholesterolemia among unselected contemporary patients presenting with first myocardial infarction: Prevalence, risk factor burden, and impact on age at presentation.
  Mortensen Martin Bødtker et al. Journal of clinical lipidology 10(5) 1145-1152.e1
• Familial hypercholesterolemia in a large ambulatory population: Statin use, optimal treatment, and identification for advanced medical therapies.
  Knickelbine Thomas et al. Journal of clinical lipidology 10(5) 1182-7
• US physician practices for diagnosing familial hypercholesterolemia: data from the CASCADE-FH registry.
  Ahmad Zahid S et al. Journal of clinical lipidology 10(5) 1223-9
• Personal Stories of Patients with Familial Hypercholesterolemia
  The FH Foundation
• The cards I was dealt: my life with familial hypercholesterolemia.
  Ames Mackenzie et al. Circulation. Cardiovascular quality and outcomes 2015 Mar 8(2) 218-9
• The Cards I Was Dealt- My Life With Familial Hypercholesterolemia
  M Ames, Circulation: Cardiovascular Quality & Outcomes, 2015
• Novel Therapies for Familial Hypercholesterolemia.
  Parizo Justin et al. Current treatment options in cardiovascular medicine 2016 Nov 18(11) 64

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• Guidelines (7)
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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