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FAMILIAL HYPERCHOLESTEROLEMIA – DO WE THINK ENOUGH ABOUT THIS SEVERE DISEASE?

Ivan Pećin
Nediljko Šućur
Željko Reiner

Puni tekst: hrvatski, pdf (639 KB) str. 0-0 preuzimanja: 104* citiraj
APA 6th Edition
Pećin, I., Šućur, N. i Reiner, Ž. (2013). PORODIČNA HIPERKOLESTEROLEMIJA – MISLIMO LI DOVOLJNO O OVOJ TEŠKOJ BOLESTI?. Liječnički vjesnik, 135 (5-6), 0-0. Preuzeto s https://hrcak.srce.hr/172476
MLA 8th Edition
Pećin, Ivan, et al. "PORODIČNA HIPERKOLESTEROLEMIJA – MISLIMO LI DOVOLJNO O OVOJ TEŠKOJ BOLESTI?." Liječnički vjesnik, vol. 135, br. 5-6, 2013, str. 0-0. https://hrcak.srce.hr/172476. Citirano 20.10.2019.
Chicago 17th Edition
Pećin, Ivan, Nediljko Šućur i Željko Reiner. "PORODIČNA HIPERKOLESTEROLEMIJA – MISLIMO LI DOVOLJNO O OVOJ TEŠKOJ BOLESTI?." Liječnički vjesnik 135, br. 5-6 (2013): 0-0. https://hrcak.srce.hr/172476
Harvard
Pećin, I., Šućur, N., i Reiner, Ž. (2013). 'PORODIČNA HIPERKOLESTEROLEMIJA – MISLIMO LI DOVOLJNO O OVOJ TEŠKOJ BOLESTI?', Liječnički vjesnik, 135(5-6), str. 0-0. Preuzeto s: https://hrcak.srce.hr/172476 (Datum pristupa: 20.10.2019.)
Vancouver
Pećin I, Šućur N, Reiner Ž. PORODIČNA HIPERKOLESTEROLEMIJA – MISLIMO LI DOVOLJNO O OVOJ TEŠKOJ BOLESTI?. Liječnički vjesnik [Internet]. 2013 [pristupljeno 20.10.2019.];135(5-6):0-0. Dostupno na: https://hrcak.srce.hr/172476
IEEE
I. Pećin, N. Šućur i Ž. Reiner, "PORODIČNA HIPERKOLESTEROLEMIJA – MISLIMO LI DOVOLJNO O OVOJ TEŠKOJ BOLESTI?", Liječnički vjesnik, vol.135, br. 5-6, str. 0-0, 2013. [Online]. Dostupno na: https://hrcak.srce.hr/172476. [Citirano: 20.10.2019.]

Sažetak
Familial hypercholesterolemia is the most common genetic metabolic disorder and is associated with significant morbidity and mortality from cardiovascular disease, in particular coronary heart disease (CHD). Gene mutations for LDL receptor, APOB or PCSK9 are the main causes of the disease. The incidence of homozygous form of disease is 1:1 000 000 and of heterozygous 1:500. Some of the patients have clinical signs like xanthomas, xanthelasmas and corneal arcus. More predictive for the diagnosis are elevated serum LDL cholesterol values and positive family history of early CHD. Identification of the causative mutation provides definitive diagnosis. Diet, statins, combined therapy (statins and ezetimibe) are the first line of treatment, mostly in high doses. LDL apheresis is the procedure of mechanical removal of LDL particles from plasma and has to be performed in patients with homozygous or severe heterozygous form of the disease together with drug treatment. There is a need to increase the awareness of this disease in Croatia but also worldwide with one main goal: to early diagnose and prevent cardiovascular morbidity and mortality.

Ključne riječi
Hyperlipoproteinemia type II – genetics, diagnosis, therapy, complications; Receptors, LDL – genetics; Mutation; Cardiovascular diseases – etiology

Hrčak ID: 172476

URI
https://hrcak.srce.hr/172476

[hrvatski]

Posjeta: 315 *