Thompson Gilbert R
Metabolic Medicine, Imperial College, Hammersmith Hospital, London, W12 0NN, UK.
Atheroscler Suppl. 2015 May;18:16-20. doi: 10.1016/j.atherosclerosissup.2015.02.002.
To describe the phenotypic and genotypic features and management of clinically homozygous familial hypercholesterolaemia (FH).
An analysis of current knowledge based on personal experience and published evidence.
Atherosclerotic involvement of the aortic root is common in homozygous FH and can cause death before age 5. Receptor negative patients are at greatest risk, irrespective of whether they have identical mutations (homozygous) or dissimilar mutations (compound heterozygous).
Lipoprotein apheresis combined with high dose statin and ezetimibe slows but does not arrest progression of atherosclerosis. Adjunctive use of novel compounds such as lomitapide and evolocumab should facilitate achieving the latter objective by enhancing the reduction in LDL cholesterol.
描述临床纯合子家族性高胆固醇血症（FH）的表型和基因型特征以及治疗方法。
基于个人经验和已发表证据对现有知识进行分析。
主动脉根部的动脉粥样硬化累及在纯合子FH中很常见，可导致5岁前死亡。受体阴性患者风险最高，无论他们具有相同突变（纯合子）还是不同突变（复合杂合子）。
脂蛋白分离术联合大剂量他汀类药物和依折麦布可减缓但不能阻止动脉粥样硬化的进展。使用洛美他派和阿利西尤单抗等新型化合物作为辅助治疗，应有助于通过进一步降低低密度脂蛋白胆固醇来实现阻止动脉粥样硬化进展这一目标。
