MEDIX, God. 27 Br. 150/151  •  Pregledni članak  •  Kardiologija HR ENG

Porodična hiperkolesterolemija – kako je prepoznati i liječitiFamilial hypercholesterolemia – how to recognize and treat

Dunja Leskovar, Ivan Pećin, Željko Reiner

Porodična hiperkolesterolemija najčešći je nasljedni poremećaj metabolizma lipida koji je obilježen doživotno povećanim razinama LDL-kolesterola, a prevalencija za heterozigotni oblik bolesti iznosi oko 1:300. Oboljeli imaju izrazito povećani rizik preuranjene kardiovaskularne bolesti, posebice koronarne bolesti srca, akutnog infarkta miokarda, aterosklerotske bolesti perifernih arterija, ishemijskog moždanog udara, tranzitornih ishemijskih ataka i sl. Bolest se u Hrvatskoj, kao i u mnogim drugim zemljama, prerijetko dijagnosticira i u pravilu neodgovarajuće liječi. Dijagnoza bolesti postavlja se klinički na temelju Dutch Lipid Score kriterija ili genske analize koja, međutim, nije nužna za postavljanje dijagnoze. Osnovni cilj liječenja je smanjivanje vrijednosti LDL-kolesterola ovisno o kardiovaskularnom riziku na <1,8 ili <1,4 mmol/l. Pri tome se koriste potentniji statini (atorvastatin ili rosuvastatin) u maksimalno podnošljivoj dozi uz dodatak ezetimiba i, po potrebi, inhibitora PCSK- 9 (evolokumab, alirokumab). Na vidiku su i novi lijekovi poput unutarstaničnog PCSK-9 inhibitora (inklisiran), male interferirajuće RNA, koji također značajno smanjuje LDL-kolesterol, a odobren je od strane Europske agencije za lijekove.

Ključne riječi:
Dutch Lipid Clinic Network Score; inhibitori PCSK-9; LDL-kolesterol; porodična hiperkolesterolemija; statini

Članak u cijelosti pročitajte u tiskanom izdanju MEDIX, God. 27 Br. 150/151

Familial hypercholesterolemia is the most common inherited disorder of lipid metabolism characterized by lifelong significantly increased LDL-cholesterol levels, with prevalence of about 1:300 for the heterozygous form of the disease. Patients have a markedly increased risk of premature cardiovascular disease, especially coronary heart disease, acute myocardial infarction, atherosclerotic peripheral artery disease, ischemic stroke, transient ischemic attacks, etc. In Croatia, as in many other countries, the disease is, generally speaking, not underdiagnosed and not adequately treated. Clinical diagnosis of the disease is based on the Dutch Lipid Clinic Network Score criteria, and can be made by physicians at all levels of the healthcare system or by genetic analysis which, however, is not necessary to give a preliminary diagnosis. The primary goal of treatment is to reduce serum LDL-cholesterol levels to <1.8 or <1.4 mmol/l, depending upon the estimated cardiovascular risk. The disease should be treated with the maximum tolerated dose of more potent statins (atorvastatin or rosuvastatin) with the addition of ezetimibe and, if necessary, PCSK-9 inhibitors (evalocumab, alirocumab). There are new promising drugs on the horizon, the intracellular PCSK-9 inhibitor (inclisiran), a small interfering RNA, which also significantly lowers LDL-cholesterol. Inclisiran is approved by EMA (European Medical Agency).

Key words:
Dutch Lipid Clinic Network Score; familial hypercholesterolemia; LDL-cholesterol, PCSK-9 inhibitors; statins