MEDIX, God. 14 Br. 77  •  Pregledni članak  •  Interna medicina HR ENG

Autosomno dominantna hiperkolesterolemijaAutosomal dominant hypercholesterolaemia

Željko Reiner

Autosomno dominatna hiperkolesterolemija relativno je rijetka nasljedna metabolička bolest kod koje dolazi do jako povišenih razina ukupnog i LDL kolesterola u plazmi pa stoga i do razvitka preuranjene i jake ateroskleroze, a posebno posljedične koronarne bolesti srca. Uzrokovana je mutacijom gena za LDL receptor (porodična hiperkolesterolemija) ili pogreškom gena za apoprotein B 100 koji se veže za LDL receptor ili pak mutacijom gena nazvanog proprotein konvertaza subtilizin/keksin tipa 9 (PCSK9) koji daje uputu za enzim važan za razgradnju LDL receptora u lizosomima zbog čega ne dolazi do njihovog recikliranja. Porodična hiperkolesterolemija se prerijetko dijagnosticira i često se neodgovarajuće liječi pa mnogi bolesnici nisu dobro zbrinuti. Lijek izbora su inhibitori HMG-CoA reduktaze – statini, ali bolesnici koji njima ne uspiju postići ciljne vrijednosti kolesterola mogu se liječiti kombinacijom statina i ezetimiba ili statina i kolesevelama da bi se postiglo odgovarajuće smanjenje LDL kolesterola. Uz to, homozigoti i/ili heterozigoti s izrazito visokim koncentracijama LDL kolesterola u krvi mogu se liječiti aferezom, a najugroženijim bolesnicima život može spasiti presađivanje jetre

Ključne riječi:
kolesevelam; ezetimib; hiperkolestrolemija; statini; kolesterol, LDL; koronarna bolest

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Autosomal dominant hypercholesterolaemia is a rare inherited metabolic disease associated with increased plasma levels of total and low-density-lipoprotein (LDL) cholesterol and the development of premature atherosclerosis, which primarily manifests in the form of coronary heart disease. Autosomal dominant hypercholesterolaemia is caused by a mutation in the LDL receptor gene (familial hypercholesterolaemia – FH), by a defect in the apoprotein B 100 – a ligand of the LDL receptor, or by mutations in the gene called proprotein convertase subtilisin/kexin type 9 (PCSK9), which codes for an enzyme involved in degradation of the LDL receptor in the lysosomes, thus preventing its recycling. Since FH is often underdiagnosed and undertreated, many FH patients do not receive adequate and timely care. Hydroxymethylglutaryl -CoA reductase inhibitors, or statins, are the first choice for the treatment of FG. However, for the patients who can not reach the target cholesterol values, the combination of statins and either ezetimibe or colesevelam could be prescribed for reducing LDL cholesterol. In addition, LDL apheresis can be used in homozygous patients as well as heterozygous patients with extremely elevated LDL cholesterol, whereas liver transplantation may be a life-saving solution in most severe cases

Key words:
cholesterol, LDL; colesevelam; coronary disease; ezetimibe; statins; hypercholesterolemia