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FAMILIAL HYPERCHOLESTEROLAEMIA – A DIAGNOSIS THAT EVERY PLASTIC SURGEON CAN EXPERIENCE


Autoři: M. Šatný;  M. Vaclová;  M. Vráblík
Působiště autorů: Charles University, First Faculty of Medicine, and General University Hospital in Prague, 3rd Internal Department – Department of Endocrinology and Metabolism, Prague, Czech Republic
Vyšlo v časopise: ACTA CHIRURGIAE PLASTICAE, 60, 2-4, 2018, pp. 54-58


Zdroje

1. Vallejo-Vaz AJ, Kondapally Seshasai SR, Cole D, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Akram A, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Corral P, Descamps O, Dieplinger H, Durst R, Freiberger T, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Nilsson L, Nordestgaard BG, O´Donoghue JM, Sahebkar A, Schunkert H, Shehab A, Stoll M, Su TC, Susekov A, Widén E, Catapano AL, Ray KK. Familial hypercholesterolaemia: A global call to arms. Atherosclerosis. 2015, 243:257–59.

2. Goldstein JL, Brown MS. Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol. Proc Natl Acad Sci U S A. 1973, 70:2804–08.

3. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver, ChR. et al. The metabolic and molecular bases of inherited disease. 8th ed. New York, McGraw-Hill, Inc. 2001; 3. Vol: 2863–2914.

4. Benn M, Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the Danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab. 2012, 97:3956–64. (Corrigendum J Clin Endocrinol Metab. 2014, 99:4758–59).

5. Sjouke B, Kusters DM, Kindt I, Besseling J, Defesche JC, Sijbrands EJ. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J. 2015, 36:560–65.

6. Müller C. Angina pectoris in hereditary xanthomatosis. Arch Intern Med. 1939, 64:675–700.

7. Khachadurian AK. The inheritance of essential familial hypercholesterolemia. Am J Med. 1964, 37:402–07.

8. Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science. 1986, 232:34–47.

9. Huijgen R, Kindt I, Defesche JC, Kastelein JJ. Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. Eur Heart J. 2012, 33:2325–30.

10. Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, Kuivenhoven JA, Nordestgaard BG, Descamps OS, Steinhagen-Thiessen E, Tybjærg-Hansen A, Watts GF, Averna M, Boileau C, Borén J, Catapano AL, Defesche JC, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Ray KK, Stalenhoef AF, Stroes E, Taskinen MR, Wiegman A, Wiklund O, Chapman MJ. European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia: Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J. 2014, 35:2146–57.

11. Cholesterol Treatment Trialists’ (CTT) Collaboration. 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.

12. Santos RD, Gidding SS, Hegele RA, Cuchel MA. Barter PJ, Watts GF, Baum SJ, Catapano AL, Chapman MJ, Defesche JC, Folco E, Freiberger T, Genest J, Hovingh GK, Harada-Shiba M, Humphries SE, Jackson AS, Mata P, Moriarty PM, Raal FJ, Al-Rasadi K, Ray KK, Reiner Z, Sijbrands EJ, Yamashita S. International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel: Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Lancet Diabetes Endocrinol. 2016, 4:850–61.

13. Češka R. Familiární hypercholesterolemie. Praha:TRITON;2015.

14. Civeira F, Perez-Calahorra S, Mateo-Gallego R. Rapid resolution of xanthelasmas after treatment with alirocumab. J Clin Lipidol. 2016, 10:1259–61.

15. Šobra J. Familiární hypercholesterolemická xanthomatosa. Praha: Avicenum; 1970.

16. Tůmová E, Vrablík M. Arcus lipoides corneae. Med. Praxi. 2013, 10:395.

17. van Aalst-Cohen ES, Jansen AC, Tanck MW, Defesche JC, Trip MD, Lansberg PJ. Diagnosing familial hypercholesterolaemia: the relevance of genetic testing. Eur Heart J. 2006, 27:2240–46.

18. Watts GF, Gidding S, Wierzbicki AS, Toth PP, Alonso R, Brown WV, Bruckert E, Defesche J, Lin KK, Livingston M, Mata P, Parhofer KG, Raal FJ, Santos RD, Sijbrands EJ, Simpson WG, Sullivan DR, Susekov AV, Tomlinson B, Wiegman A, Yamashita S, Kastelein JJ. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol. 2014, 171:309–25.

19. Mach F, Baigent C, Catapano AL. 2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. European Heart Journal[online]. 2019 [cit. 2019-09-01]. DOI: 10.1093/eurheartj/ehz455. ISSN 0195-668X. Available at: https://academic.oup.com/eurheartj/advance-article/doi/10.1093/eurheartj/ehz455/5556353

Štítky
Chirurgie plastická Ortopedie Popáleninová medicína Traumatologie

Článek vyšel v časopise

Acta chirurgiae plasticae

Číslo 2-4

2018 Číslo 2-4
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