Nair Devaki R, Sharifi Mahtab, Al-Rasadi Khalid
aDepartment of Metabolic Medicine, Clinical Biochemistry, Royal Free NHS Foundation Trust, London, UK bDepartment of Clinical Biochemistry, Sultan Qaboos University Hospital, Muscat, Oman.
Curr Opin Cardiol. 2014 Jul;29(4):381-8. doi: 10.1097/HCO.0000000000000083.
Familial hypercholesterolaemia is associated with lifelong elevated cholesterol levels and is an important cause of premature coronary heart disease (CHD). This condition is often underdiagnosed and undertreated. Awareness of this condition is poor among nonlipid specialists. Treatment of elevated cholesterol levels with statins reduces the risk for CHD. The review will increase the awareness of this condition among nonspecialists.
Recently, several guidelines have been produced by different countries, but a unified approach to this global problem is addressed through a recent guideline facilitated by the Familial Hypercholesterolaemia Foundation. Although the widespread use of statins has been successful in reducing the risk for CHD in familial hypercholesterolaemia, there have been difficulties in getting to targets, especially in those with established vascular disease. New therapies such as mipomersen, a second-generation antisense oligonucleotide, microsomal triglyceride transfer protein inhibitors that decrease the synthesis of apolipoprotein B-containing lipoproteins and proprotein convertase subtilisin/kexin type 9 inhibitors hold promise in reducing cholesterol levels in those patients in whom low density lipoprotein cholesterol (LDL-C) reduction is required beyond the use of statins, especially in those with severe heterozygous familial hypercholesterolaemia or homozygous familial hypercholesterolaemia.
Increased awareness and wider availability of guidance to treat familial hypercholesterolaemia will improve management of familial hypercholesterolaemia. New therapies, if they become available after appropriate outcome studies, will reduce LDL-C levels in both homozygous familial hypercholesterolaemia and severe heterozygous familial hypercholesterolaemia, thus reducing the risk for premature CHD.
家族性高胆固醇血症与终生胆固醇水平升高相关，是早发性冠心病（CHD）的重要病因。这种疾病常常诊断不足且治疗不充分。非血脂专科医生对该疾病的认知较差。使用他汀类药物治疗升高的胆固醇水平可降低冠心病风险。本综述将提高非专科医生对这种疾病的认识。
最近，不同国家制定了多项指南，但家族性高胆固醇血症基金会促成的一项最新指南针对这一全球性问题给出了统一方法。尽管广泛使用他汀类药物已成功降低家族性高胆固醇血症患者的冠心病风险，但在实现治疗目标方面仍存在困难，尤其是在那些已患有血管疾病的患者中。新疗法如第二代反义寡核苷酸米泊美生、降低含载脂蛋白B脂蛋白合成的微粒体甘油三酯转移蛋白抑制剂以及前蛋白转化酶枯草溶菌素/kexin 9型抑制剂，有望降低那些除使用他汀类药物外还需要降低低密度脂蛋白胆固醇（LDL-C）的患者的胆固醇水平，特别是那些患有严重杂合子家族性高胆固醇血症或纯合子家族性高胆固醇血症的患者。
提高对家族性高胆固醇血症的认识并更广泛地提供治疗指导将改善家族性高胆固醇血症的管理。如果新疗法在适当的疗效研究后可用，将降低纯合子家族性高胆固醇血症和严重杂合子家族性高胆固醇血症患者的LDL-C水平，从而降低早发性冠心病风险。
