Project MedPed – spotlight on patients with familial hypercholesterolaemia
Authors:
M. Vaclová 1; M. Vráblík 1; T. Freiberger 2; R. Češka 1
Authors place of work:
III. interní klinika 1. LF UK a VFN v Praze
1; Genetická laboratoř, Centrum kardiovaskulární a transplantační chirurgie, Brno
2
Published in the journal:
Kardiol Rev Int Med 2016, 18(3): 203-207
Summary
Familial hypercholesterolaemia is an inborn defect of cholesterol metabolism, which seems to be considerably more prevalent than previously thought. Given the recently proposed prevalence of 1: 250 in the general population, we estimate up to some 40,000 individuals are affected in the Czech Republic. FH patients should be diagnosed, adequately informed and treated as early as possible. Comprising of a number of specialised outpatient centres, the MedPed network has been successfully working to this objective for the last 17 years.
Keywords:
MedPed – familial hypercholesterolaemia – cascade screening – cardiovascular risk – mutation – ScreenPro FH
Zdroje
1. World Health Organization: Familial hypercholesterolemia – report of a second WHO Consultation. Geneva, Switzerland: World Health Or- ganization 1999 (WHO publication No. WHO/HGN/ /FH/CONS/99.2). Available from: http: //apps.who.int/iris/bitstream/10665/66346/1/ WHO_HGN_ FH_CONS_99.2.pdf.
2. Goldstein JL, Brown MS. Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-metylglutaryl coenzyme A reductase aktivity associated with overproduction of cholesterol. Proc Natl Acad Sci USA 1973; 70: 2804–2808.
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8. Nordestgaard BG, Chapman MJ, Humphries SE et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013; 34: 3478–3490. doi: 10.1093/eurheartj/eht273.
9. Williams RR, Hunt SC, Schumacher MC at al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993, 72: 171–176.
10. Identification and Management of Familial Hypercholesterolaemia (FH). NICE Clinical Guidelines, No. 71. National Collaborating Centre for Primary Care (UK). London: Royal College of General Practitioners (UK) 2008.
11. van Aalst-Cohen ES, Jansen AC, Tanck MW et al. Diagnosing familial hypercholesterolaemia: the relevance of genetic testing. Eur Heart J 2006; 27: 2240–2246. doi: 10.1093/eurheartj/ehl113.
12. Varret M, Abifadel M, Rabès JP et al. Genetic heterogeneity of autosomal dominant hypercholsterolemia. Clin Genet 2008; 73: 1–13. doi: 10.1111/j.1399-0004.2007.00915.x
13. Rader DJ, Cohen J, Hobbs HH. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest 2003; 111: 1795–1803. doi: 10.1172/JCI20031892.
Štítky
Paediatric cardiology Internal medicine Cardiac surgery CardiologyČlánok vyšiel v časopise
Cardiology Review
2016 Číslo 3
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