Rogozik Joanna, Główczyńska Renata, Grabowski Marcin
1st Department of Cardiology, Medical University of Warsaw, Warsaw, Poland.
Clin Genet. 2024 Jan;105(1):3-12. doi: 10.1111/cge.14435. Epub 2023 Oct 17.
Lipid disorders play a critical role in the intricate development of atherosclerosis and its clinical consequences, such as coronary heart disease and stroke. These disorders are responsible for a significant number of deaths in many adult populations worldwide. Familial hypercholesterolemia (FH) is a genetic disorder that causes extremely high levels of LDL cholesterol. The most common mutations occur in genes responsible for low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin/kexin type 9 (PCSK9). While genetic testing is a dependable method for diagnosing the disease, it may not detect primary mutations in 20%-40% of FH cases.
脂质紊乱在动脉粥样硬化的复杂发展及其临床后果（如冠心病和中风）中起着关键作用。这些紊乱在全球许多成年人群中导致了大量死亡。家族性高胆固醇血症（FH）是一种导致低密度脂蛋白胆固醇水平极高的遗传性疾病。最常见的突变发生在负责低密度脂蛋白受体（LDLR）、载脂蛋白B（APOB）或前蛋白转化酶枯草杆菌蛋白酶/kexin 9型（PCSK9）的基因中。虽然基因检测是诊断该疾病的可靠方法，但在20%-40%的FH病例中可能无法检测到原发性突变。
