Porodična hiperkolesterolemija - mislimo li dovoljno o ovoj teškoj bolesti?

Scientific paper - Preliminary note / Short communication

• Title (english): Familial hypercholesterolemia - do we think enough about this severe disease?
• Author: Ivan Pećin
• Author: Nediljko Šućur
• Author: Željko Reiner
• Author's institution: University of Zagreb; School of Medicine
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences

Abstract (english)

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 1:1000000 and ofheterozygous 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.

Abstract (croatian)

Porodična hiperkolesterolemija je najčešći genetski metabolički poremećaj koji je povezan sa značajnim pobolom i smrtnosti od kardiovaskularnih bolesti. Glavni uzrok bolesti su mutacije gena za LDL-receptor, molekulu APOB ili enzim PCSK9. Postoji homozigotni oblik bolesti s incidencijom 1:1 000 000 te heterozigotni oblik s 1:500. U kliničkom statusu bolesnika nalazimo ksantome, ksantelazme i arcus corneae senilis. U postavljanju dijagnoze pomaže nam iscrpna anamneza (podatak o preboljelim srčanim bolestima te klinički znakovi koronarne bolesti srca, pozitivna obiteljska anamneza o ranoj smrti zbog srca), povišena koncentracija LDL-kolesterola te neka fenotipska obilježja. Konačna pouzdana dijagnoza u bolesnika koji se prema kliničkoj slici i razini LDL-kolesterola uklapaju u definiciju porodične hiperkolesterolemije postavlja se jedino analizom DNK. Pronalazak mutacije otvara mogućnost retrogradnog probira u obitelji s ciljem otkrivanja srodnika koji također nose mutaciju i imaju znatan rizik da preuranjeno obole od koronarne bolesti ili infarkta miokarda pa podlegnu ovoj opasnoj bolesti. Dijeta, statini, kombinirana terapija (statini i ezetimib) prva su linija liječenja, i to uglavnom u visokim dozama. Često ovakav terapijski pristup nije dovoljan pa je uz davanje lijekova potrebno provoditi postupak afereze – mehaničkog uklanjanja LDL-čestica iz krvi. Taj je postupak katkad jedina opcija u bolesnika koji su homozigoti jer je još i sad konzervativniji nego što je to transplantacija jetre. Projektima koji uključuju podizanje svijesti o ovoj bolesti, boljim probirom te omogućavanjem genske analize bolesnika s porodičnom hiperkolesterolemijom postiže se ranija dijagnoza, bolje liječenje te u skladu s time prevencija pobola i smrtnosti od kardiovaskularne bolesti i u svijetu i u Hrvatskoj.

• Keywords (english): Apolipoproteins B/genetics; Coronary Disease/etiology; Croatia; Heterozygote; Homozygote; Humans; Hyperlipoproteinemia Type II/complications; Hyperlipoproteinemia Type II/diagnosis; Hyperlipoproteinemia Type II/genetics; Hyperlipoproteinemia Type II/therapy; Mutation; Proprotein Convertases/genetics; Receptors, LDL/genetics; Serine Endopeptidases/genetics
• Language: croatian
• Publication type: Scientific paper - Preliminary note / Short communication
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Liječnički vjesnik
• Numbering: vol. 135, no. 5-6, pp. 145-149
• p-ISSN: 0024-3477
• URN:NBN: urn:nbn:hr:105:257176
• Publication: 2013-05
• Document URL: http://lijecnicki-vjesnik.hlz.hr/lijecnicki-vjesnik/porodicna-hiperkolesterolemija-mislimo-li-dovoljno-o-ovoj-teskoj-bolesti/
• Type of resource: Text
• Access conditions: Open access
• Created on: 2024-03-28 07:58:02