Schöb Manuela, Müller Pascal, Gerth Yannick, Korte Wolfgang, Rickli Hans, Brändle Michael, Bärlocher Andreas, Bilz Stefan
1 Klinik für Endokrinologie, Diabetologie, Osteologie und Stoffwechselkrankheiten, Kantonsspital St. Gallen.
2 Pädiatrische Gastroenterologie & Ernährungsmedizin, Ostschweizer Kinderspital, St. Gallen.
Praxis (Bern 1994). 2018 Nov;107(24):1345-1353. doi: 10.1024/1661-8157/a003134.
Diagnosis and Treatment of Familial Hypercholesterolemia Abstract. Familial hypercholesterolemia secondary to heterozygous mutations in the LDL receptor, Apolipoprotein B or PCSK9 gene is characterized by 2- to 3-fold elevated LDL cholesterol levels, premature atherosclerosis and extravascular cholesterol deposits (tendon xanthomata, corneal arcus). The same phenotype may occur if a person carries several LDL cholesterol rising polymorphisms (polygenic FH). Primary prevention with statins has been shown to dramatically reduce the cardiovascular burden in patients with the disease. However, it is estimated that less than 10 % of affected subjects in Switzerland have received the diagnosis, and undertreatment is frequent. Thus, clinical cardiovascular events are still the first manifestation of the disease in many cases. A correct diagnosis in index patients and cascade screening of families are mandatory to identify and treat patients before they suffer the sequelae of untreated severe hypercholesterolemia. In patients with clinical cardiovascular disease combination lipid lowering treatment with potent statins, ezetimibe and the newly available PCSK9 inhibitors will successfully lower LDL cholesterol to normal or even target levels.
家族性高胆固醇血症的诊断与治疗 摘要。由低密度脂蛋白受体、载脂蛋白B或前蛋白转化酶枯草溶菌素9（PCSK9）基因杂合突变引起的家族性高胆固醇血症的特征是低密度脂蛋白胆固醇水平升高2至3倍、早发性动脉粥样硬化和血管外胆固醇沉积（腱黄瘤、角膜弓）。如果一个人携带多个使低密度脂蛋白胆固醇升高的多态性（多基因家族性高胆固醇血症），也可能出现相同的表型。他汀类药物的一级预防已被证明可显著减轻该病患者的心血管负担。然而，据估计，瑞士不到10%的受影响患者得到了诊断，治疗不足的情况很常见。因此，在许多情况下，临床心血管事件仍是该病的首发表现。对索引病例进行正确诊断并对家族进行级联筛查，对于在患者遭受未经治疗的严重高胆固醇血症后遗症之前识别和治疗患者至关重要。对于患有临床心血管疾病的患者，联合使用强效他汀类药物、依泽替米贝和新上市的PCSK9抑制剂进行降脂治疗，将成功地将低密度脂蛋白胆固醇降至正常甚至目标水平。
