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首页> 外文期刊>Journal of Clinical Pharmacy and Therapeutics >Genetic predisposition to atorvastatin-induced myopathy: A case report
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Genetic predisposition to atorvastatin-induced myopathy: A case report

机译：阿托伐他汀引起的肌病的遗传易感性：病例报告

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What is known and Objective: The major clinical complication of statins is a variety of muscle complaints ranging from myalgia to rhabdomyolysis. There is growing evidence that carriers of genetic polymorphisms in the enzymes and transporters implicated in statin disposition, particularly the SLCO1B1 gene, are at increased risk of myotoxicity. Our objective is to report on two cases of statin-induced myopathy occurring in a family with two patients who are carriers of the loss of function SLCO1B1 genetic variant and to briefly review the related literature. Case summary: Patient 1, a 48-year-old man with history of coronary artery disease, experienced rapidly evolving muscle pain and weakness of the extremities during treatment with atorvastatin 40 mg. Patient 2, a 65-year-old man, father of patient 1, had symptoms similar to those of his son after 2 weeks' treatment with the same statin. Atorvastatin was stopped in both cases, and symptoms resolved. On the basis of family relationship between the two patients, it was possible to hypothesize a genetic basis for the myopathy. Genotyping showed the patients to be carriers of the rs4363657 polymorphism of SLCO1B1 gene. What is new and Conclusion: The two cases reported here and the brief literature review emphasize the impact of genetic factors on the risk of myopathy with statins. Although genotyping all patients before initiating therapy is not recommended at present, pharmacogenetic testing may be useful for new patients who have a family history of statin-induced myopathy.
机译：已知和目的：他汀类药物的主要临床并发症是从肌痛到横纹肌溶解的各种肌肉不适。越来越多的证据表明，与他汀类药物有关的酶和转运蛋白中的遗传多态性载体，尤其是SLCO1B1基因，具有更高的肌毒性风险。我们的目标是报告一个家庭中有2例他汀类药物引起的肌病，其中2例患者是功能丧失SLCO1B1基因变异的携带者，并简要回顾相关文献。病例摘要：患者1，具有冠状动脉疾病病史的48岁男性，在使用阿托伐他汀40 mg治疗期间经历了快速发展的肌肉疼痛和四肢无力。患者2，一个65岁的男人，是患者1的父亲，在用相同的他汀类药物治疗2周后，症状与儿子相似。两种情况均停用阿托伐他汀，症状得以缓解。根据这两名患者之间的家庭关系，有可能为该肌病假设一个遗传基础。基因分型显示患者是SLCO1B1基因的rs4363657多态性的携带者。新内容和结论：本文报道的两个病例和简要的文献综述都强调了遗传因素对他汀类药物引起肌病风险的影响。尽管目前不建议在开始治疗前对所有患者进行基因分型，但是对于有他汀类药物引起的肌病家族史的新患者，药物遗传学检测可能是有用的。

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