hyperlipoproteinemia type 2 (familial hypercholesterolemia)

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Etiology

Epidemiology

  • gene frequency 0.2-0.5% in USA, but as high as 1.3% in white South Africans & in Lebanon

Pathology

Genetics

Clinical manifestations

Laboratory

Radiology

Complications

Management

More general terms

More specific terms

Additional terms

References

  1. Clinical Diagnosis & Management by Laboratory Methods, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1991, pg 208
  2. Tietz Textbook of Clinical Chemistry, 2nd ed. Burtis CA & Ashwood ER (eds), WB Saunders Co, Philadelphia PA, 1993, pg 1038
  3. Jump up to: 3.0 3.1 Journal Watch 22(3):21, 2002 Titan SM et al Frequency of eating and concentrations of serum cholesterol in the Norfolk population of the European prospective investigation into cancer (EPIC-Norfolk): cross sectional study. BMJ. 2001 Dec 1;323(7324):1286-8 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11731392
  4. Jump up to: 4.0 4.1 Medical Knowledge Self Assessment Program (MKSAP) 16, 18. American College of Physicians, Philadelphia 2012, 2018.
  5. Jump up to: 5.0 5.1 5.2 5.3 5.4 5.5 5.6 5.7 Anello J, Feinberg B, Heinegg J, Lindsey R, Wojdylo C, Wong O. Medcsape Oncology. August 2014 Guidelines on homozygous familial hypercholesterolemia (HoFH) from the European Atherosclerosis Society http://reference.medscape.com/features/slideshow/guidelines-review/august2014
  6. Jump up to: 6.0 6.1 Lozano P, Henrikson NB, Dunn J et al Lipid Screening in Childhood and Adolescence for Detection of Familial Hypercholesterolemia. Evidence Report and Systematic Review for the US Preventive Services Task Force. JAMA. 2016;316(6):645-655 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/27532919 <Internet> http://jama.jamanetwork.com/article.aspx?articleid=2542641
  7. Jump up to: 7.0 7.1 Singh A, Gupta A, Collins BL et al. Familial hypercholesterolemia among young adults with myocardial infarction. J Am Coll Cardiol 2019 May 21; 73:2439. PMID: https://www.ncbi.nlm.nih.gov/pubmed/31097165 https://www.sciencedirect.com/science/article/pii/S0735109719345528
  8. Jump up to: 8.0 8.1 8.2 Luirink IK, Wiegman A, Kusters DM et al. 20-year follow-up of statins in children with familial hypercholesterolemia. N Engl J Med 2019 Oct 17; 381:1547-1556 PMID: https://www.ncbi.nlm.nih.gov/pubmed/31618540 https://www.nejm.org/doi/10.1056/NEJMoa1816454

Patient information

hyperlipoproteinemia type 2 (familial hypercholesterolemia) patient information

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