Belgian Register of patients with familial hypercholesterolemia

Familial hypercholesterolemia (FH) is a genetic disorder characterized by very high levels of low-density lipoprotein (LDL, "bad cholesterol"), in the blood and early cardiovascular disease (CVD). FH is caused by mutations in the LDLR gene that encodes the LDL receptor protein, the apolipoprotein B (ApoB) or the PCSK9 protein, all involved in the removal of LDL from the circulation. Heterozygous FH patient (having one abnormal copy of gene) may develop CVD prematurely at the age of 30 to 40 whereas the homozygous patients (two abnormal copies) may cause severe CVD in childhood. It is expected (but not exactly known) that about 1 in 300 to 500 Belgians citizens have heterozygous FH and 10-20 have homozygous FH. Treatments to control of blood cholesterol must be initiated at early age (in childhood) and consist to dietary modification and statin combined very often with ezetimibe and sometimes with anti-PCSK9 monoclonal antibodies. In heterozygous FH, such treatments are very effective to prevent the occurrence of cardiovascular disease whereas homozygous FH often does not respond to medical therapy and may require other treatments, including LDL apheresis (removal of LDL in a method similar to dialysis) and occasionally liver transplantation.家族性高胆固醇血症（Familial hypercholesterolemia, FH）是一种遗传性疾病，以血液中极高水平的低密度脂蛋白（low-density lipoprotein, LDL，即“坏胆固醇”）及早发性心血管疾病（cardiovascular disease, CVD）为特征。FH由编码低密度脂蛋白受体蛋白的LDLR基因、载脂蛋白B（apolipoprotein B, ApoB）或PCSK9蛋白发生突变引起，上述分子均参与循环中低密度脂蛋白的清除过程。杂合子型FH患者（携带一份异常基因拷贝）可在30至40岁时过早罹患心血管疾病，而纯合子患者（携带两份异常基因拷贝）可在儿童期即出现严重心血管病变。据推测（尚无确切定论），每300至500名比利时公民中约有1名杂合子型FH患者，纯合子型FH患者约占每10至20人中的1例。控制血清胆固醇水平的治疗需于早年（儿童期）启动，治疗方案包括饮食调整，以及常与依折麦布联用、有时联合抗PCSK9单克隆抗体的他汀类药物治疗。对于杂合子型FH患者，此类治疗可有效预防心血管疾病的发生；而纯合子型FH患者往往对药物治疗应答不佳，可能需要其他治疗手段，包括低密度脂蛋白单采术（一种类似血液透析的低密度脂蛋白清除疗法），偶需接受肝移植。