家族性高膽固醇血症是造成高濃度低密度膽固醇之基因遺傳疾病，患者常因此產生早發性冠狀動脈疾病。此篇迷你綜論著重討論家族性高膽固醇血症中最為嚴重之次分型：即基因型同合子變異、複合異合子變異、與雙重異合子變異，臨床表型統稱同合子家族性高膽固醇血症。以下包含兩部分：第一部分簡述來自單一醫學中心之系列病例、第二部分探討現今治療準則與困境並回顧新型降血脂藥物PCSK9抑制劑針對同合子家族性高膽固醇血症之臨床試驗。總結來說，及早治療家族性高膽固醇血症，並給予足夠降血脂藥物來達到治療目標，以預防冠狀動脈疾病生成，仍需藉由多方教育來達成。

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder that increases the level of low-density lipoprotein cholesterol (LDL-C) and causes premature coronary artery disease. HoFH is usually undiagnosed until the cardiac events occur. Most patients with asymptomatic HoFH are also not treated adequately. Proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitor is a powerful LDL-C-lowering agent. In this review, we described the treatment experiences of eight patients with HoFH in our hospital. We also reviewed the clinical trials of PCSK9 inhibitor therapy for HoFH and discussed the current challenges of HoFH treatment in Taiwan.