T reatment of homozygous familial hypercholesterolemia (HoFH), historically, has been empiric (1). Morbidity and mortality are related to severe lifelong elevations of low-density lipoprotein (LDL) cholesterol, leading to atherosclerotic heart disease and aortic stenosis beginning in the second decade of life. Lowering cholesterol levels by any means necessary, within constraints of safety and patient tolerance, has been the goal. The rarity of the condition, about 1:250,000 to 1:1,000,000, often makes clinical trials impractical. Treatment begins at the time of diagnosis, preferentially early in childhood. Complicating treatment is the nature of cholesterol metabolism itself. The same genetic defects of LDL receptor function causing LDL plasma elevation may also affect efficacy of treatment, if treatment requires LDL receptor function as part of its therapeutic pathway (2).

中文翻译：

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管理纯合子家族性高胆固醇血症 ∗

历史上，纯合子家族性高胆固醇血症 (HoFH) 的治疗一直是经验性的 (1)。发病率和死亡率与低密度脂蛋白 (LDL) 胆固醇终生严重升高有关，导致从生命的第二个十年开始的动脉粥样硬化性心脏病和主动脉瓣狭窄。在安全和患者耐受性的限制范围内，通过任何必要的手段降低胆固醇水平一直是目标。这种情况的罕见性，大约 1:250,000 到 1:1,000,000，经常使临床试验不切实际。治疗在诊断时开始，最好是在儿童早期。复杂的治疗是胆固醇代谢本身的性质。导致低密度脂蛋白血浆升高的低密度脂蛋白受体功能相同的遗传缺陷也可能影响治疗效果，