临床药师参与青年患者家族性高胆固醇血症治疗的药学实践

Pharmaceutical Practice of Clinical Pharmacists in the Treatment of Familial Hypercholesterolemia in Young Patients

本文报道临床药师参与青年患者家族性高胆固醇血症的治疗过程,结合家族史、基因检测和患者疾病特征,提示患者诊断纯合子家族性高胆固醇血症(homozygous familial hypercholesterolemia,HoFH)可能性很大。患者在治疗过程中发现治疗效果不明显,临床药师提示他汀类药物存在基因多态性问题,检测发现阿托伐他汀、辛伐他汀和普伐他汀检测基因APOE,变异位点E2/E4(rs7412/rs429358),与(E2/E2、E2/E3)相比,药物应答较差;瑞舒伐他汀检测基因SLCO1B1,变异位点rs4149056为TT型,与CC型相比,患者药物应答较好,给予瑞舒伐他汀20 mg qn治疗后,低密度脂蛋白波动在4.87~6.65mmol·L^(-1),未达治疗目标。临床药师建议联合给予新型调脂药物PCSK9抑制药依洛尤单抗420 mg每月1次,2个月后患者LDL-C 1.62~2.93 mmol·L^(-1),降至达标范围,黄色瘤逐渐减弱,好转出院。

This paper reported the participation of clinical pharmacists in the treatment of familial hypercholesterolemia in a young patient.Combined with family history,gene detection and disease characteristics of the patient,the patient was diagnosed as homozygous familial hypercholesterolemia(HoFH).In the course of treatment,it was found that the therapeutic effects were not obvious.Clinical pharmacists suggested the problem of genetic polymorphism in statins.Drug responses of atorvastatin,simvastatin and pravastatin were poor when the patients were with gene APOE and mutation site E2/E4(rs7412/rs429358)when compared with those with(E2/E2,E2/E3).The effects of rosuvastatin were better in the patients with SLCO1 B1 gene and TT type of mutation site rs4149056 than those with CC type.After treatment with rosuvastatin 20 mg qn,low density lipoprotein fluctuated between 4.87 and 6.65 mmol·L^(-1),which did not reach the therapeutic target.Clinical pharmacists further recommended that evolocumab 420 mg qm be combined with PCSK9 inhibitor.After 2 months,LDL-C was 1.62-2.93 mmol·L^(-1),reaching the standard range.The patient’s yellow tumor was gradually weakened,and the patient was improved and discharged.