Korean Circulation Journal

The Korean Society of Cardiology (대한심장학회)
권호 표지
DOI QR코드

DOI QR Code

Familial Hypercholesterolemia and the Atherosclerotic Disease

  • Kim, Yoo Ri (Department of Cardiology, College of Medicine, University of Ulsan, Asan Medical Center) ;
  • Han, Ki Hoon (Department of Cardiology, College of Medicine, University of Ulsan, Asan Medical Center)
  • Published : 2013.06.30
⟨ Previous Next ⟩

Abstract

Familial hypercholesterolemia (FH) is associated with premature atherosclerotic cardiovascular diseases, and is inherited as an autosomal dominant trait. The prevalence of FH is one in five hundred people. Owing to dysfunctional low density lipoprotein (LDL) receptors due to genetic mutations, serum low density lipoprotein-cholesterol (LDL-C) levels are considerably increased from birth. FH is clinically diagnosed by confirmation of family history and characteristic findings such as tendon xanthoma or xanthelasma. Thus, clinical concern and suspicion are important for early diagnosis of the disease. Current guidelines recommend lowering LDL-C concentration to at least 50% from baseline. Statins are shown to lower LDL-C levels with high safety, and thus, have been the drug of choice. However, it is difficult to achieve an ideal level of LDL-C with a single statin therapy in the majority of FH patients. Alternatively, lipid lowering combination therapy with the recently-introduced ezetimibe has shown more encouraging results.

Keywords

References

  1. Wierzbicki AS, Humphries SE, Minhas R; Guideline Development Group. Familial hypercholesterolaemia: summary of NICE guidance. BMJ 2008;337:a1095. https://doi.org/10.1136/bmj.a1095
  2. World Health Organization Human Genetics Programme. Familial Hypercholesterolaemia (FH): Report of a Second WHO Consultation, Geneva, 4 September 1998. Geneva: World Health Organization, Human Genetics Program;1999.
  3. Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 1991;303:893-6. https://doi.org/10.1136/bmj.303.6807.893
  4. Soutar AK, Naoumova RP. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 2007;4: 214-25. https://doi.org/10.1038/ncpcardio0836
  5. Humphries SE, Whittall RA, Hubbart CS, et al. Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. J Med Genet 2006;43:943-9. https://doi.org/10.1136/jmg.2006.038356
  6. Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003;168:1-14. https://doi.org/10.1016/S0021-9150(02)00330-1
  7. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Familial hypercholesterolemia and coronary heart disease: a HuGE association review. Am J Epidemiol 2004;160:421-9. https://doi.org/10.1093/aje/kwh237
  8. Williams RR, Hunt SC, Schumacher MC, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993;72:171-6. https://doi.org/10.1016/0002-9149(93)90155-6
  9. Yuan G, Wang J, Hegele RA. Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease. CMAJ 2006;174:1124-9. https://doi.org/10.1503/cmaj.051313
  10. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group. Atherosclerosis 1999; 142:105-12. https://doi.org/10.1016/S0021-9150(98)00200-7
  11. Sibley C, Stone NJ. Familial hypercholesterolemia: a challenge of diagnosis and therapy. Cleve Clin J Med 2006;73:57-64. https://doi.org/10.3949/ccjm.73.1.57
  12. Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 2001;357:165-8. https://doi.org/10.1016/S0140-6736(00)03587-X
  13. Huijgen R, Vissers MN, Defesche JC, Lansberg PJ, Kastelein JJ, Hutten BA. Familial hypercholesterolemia: current treatment and advances in management. Expert Rev Cardiovasc Ther 2008;6:567-81. https://doi.org/10.1586/14779072.6.4.567
  14. Cholesterol Treatment Trialists' (CTT) Collaboration, Baigent C, Blackwell L, et al. Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170,000 participants in 26 randomised trials. Lancet 2010;376:1670-81. https://doi.org/10.1016/S0140-6736(10)61350-5
  15. Akram ON, Bernier A, Petrides F, Wong G, Lambert G. Beyond LDL cholesterol, a new role for PCSK9. Arterioscler Thromb Vasc Biol 2010;30: 1279-81. https://doi.org/10.1161/ATVBAHA.110.209007

Cited by

  1. Familial Hypercholesterolemia: New Horizons for Diagnosis and Effective Management vol.9, pp.None, 2018, https://doi.org/10.3389/fphar.2018.00707
  2. Alfa2-adrenoblockers attenuate the elevated plasma cholesterol, anxiety levels and restore impaired spatial memory of rats under the chronic noise exposure vol.740, pp.None, 2013, https://doi.org/10.1016/j.scitotenv.2020.140390
  3. [ 18 F]Atorvastatin: synthesis of a potential molecular imaging tool for the assessment of statin-related mechanisms of action vol.10, pp.1, 2013, https://doi.org/10.1186/s13550-020-00622-4
  4. Monitoring of up to 15 years effects of lipoprotein apheresis on lipids, biomarkers of inflammation, and soluble endoglin in familial hypercholesterolemia patients vol.16, pp.1, 2021, https://doi.org/10.1186/s13023-021-01749-w