Kawamura Megan, Casimiro Isabel
Department of Medicine, University of Hawaii John A. Burns School of Medicine, Honolulu, HI 96813, USA.
Department of Medicine (Endocrinology), Queens University Medical Group, Honolulu, HI 96813, USA.
JCEM Case Rep. 2025 Jul 10;3(8):luaf117. doi: 10.1210/jcemcr/luaf117. eCollection 2025 Aug.
A 54-year-old female individual with a history of hyperlipidemia, hypothyroidism, latent autoimmune diabetes of the adult (LADA) with hypoglycemia unawareness, vitiligo, and asthma presented with exercise-limiting pleuritic chest pain and dyspnea. She underwent a full pulmonary and cardiac workup locally and at Mayo Clinic, which were normal and negative for pulmonary embolism and showed no evidence of cardiac ischemia. Her family history and abnormal lipid panels suggested possible familial hypercholesterolemia by Dutch criteria. Lipid fractionation studies were done to further assess abnormal lipid levels and symptoms, as she lives a generally healthy and active lifestyle. Lipid fractionation studies revealed abnormal small, dense (sdLDL) and low-density lipoproteins (LDL) particle numbers. She was started on a triple cholesterol management regimen of ezetimibe, evolocumab, and bempedoic acid, which improved lipid fractionation values and symptoms. This case highlights the utility of using lipid fractionation studies in addition to traditional lipid panels to best treat patients with abnormal lipid panels on lipid-lowering therapy.
一名54岁女性,有高脂血症、甲状腺功能减退、成人隐匿性自身免疫性糖尿病(LADA)伴低血糖无知觉、白癜风和哮喘病史,出现了限制运动的胸膜炎性胸痛和呼吸困难。她在当地及梅奥诊所接受了全面的肺部和心脏检查,结果正常,排除了肺栓塞,也没有心脏缺血的证据。她的家族病史和异常血脂指标提示按照荷兰标准可能患有家族性高胆固醇血症。由于她总体生活方式健康且活跃,因此进行了血脂分离研究以进一步评估异常血脂水平和症状。血脂分离研究显示小而密低密度脂蛋白(sdLDL)和低密度脂蛋白(LDL)颗粒数量异常。她开始接受依折麦布、阿利西尤单抗和贝派地酸的三联胆固醇管理方案,该方案改善了血脂分离值和症状。本病例强调了除传统血脂指标外,使用血脂分离研究对于接受降脂治疗的血脂异常患者进行最佳治疗的实用性。