Kayikcioglu Meral, Ozkan Hasan Selcuk, Yagmur Burcu, Bayraktaroglu Selen, Vardarli Asli Tetik
Department of Cardiology, Ege University School of Medicine, Izmir, Turkey.
Ege University School of Medicine, Izmir, Turkey.
Front Genet. 2023 Jan 4;13:1087089. doi: 10.3389/fgene.2022.1087089. eCollection 2022.
Homozygous familial hypercholesterolemia (HoFH) is a rare and devastating genetic condition characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) leading to an increased risk of premature atherosclerosis. Patients with Homozygous familial hypercholesterolemia mostly present with mutations in ; however, herein, we present two cases with concomitant mutations, who showed different clinical courses and treatment adherence on long-term therapy with the new MTTP inhibitor lomitapide. We aimed to present the possibility of preventing the progression of atherosclerotic burden with effective and safe LDL-C reduction in patients with Homozygous familial hypercholesterolemia on low-dose lomitapide therapy and emphasize the role of treatment adherence in therapy success. We present two patients with phenotypically Homozygous familial hypercholesterolemia, a compound heterozygous woman and a simple homozygous man, both with and additional mutations, who were treated with the MTTP-inhibiting agent lomitapide, with different treatment compliances. The role of impulsivity was investigated through , and the extent of the atherosclerotic burden was followed up using coronary artery calcium scoring, echocardiographic and sonographic findings, and, eventually, through a strict follow-up of laboratory parameters. The patients were on lomitapide for 8 and 5 years, respectively, with no adverse effects. When accompanied by good adherence to therapy, low-dose lomitapide on top of standard lipid-lowering therapy with decreased frequency of lipid apheresis prevented the progression of atherosclerotic burden. Non-compliance might occur due to patient impulsivity and non-adherence to a low-fat diet.
纯合子家族性高胆固醇血症（HoFH）是一种罕见且严重的遗传性疾病，其特征是低密度脂蛋白胆固醇（LDL-C）水平极高，导致过早发生动脉粥样硬化的风险增加。纯合子家族性高胆固醇血症患者大多存在 突变；然而，在此我们报告两例伴有 突变的病例，他们在使用新型MTTP抑制剂洛美他派进行长期治疗时表现出不同的临床病程和治疗依从性。我们旨在探讨在低剂量洛美他派治疗的纯合子家族性高胆固醇血症患者中，通过有效且安全地降低LDL-C来预防动脉粥样硬化负担进展的可能性，并强调治疗依从性在治疗成功中的作用。我们报告了两名表型为纯合子家族性高胆固醇血症的患者，一名复合杂合子女性和一名单纯纯合子男性，二者均有 突变及额外的 突变，他们接受了MTTP抑制剂洛美他派治疗，但治疗依从性不同。通过 研究了冲动性的作用，并使用冠状动脉钙化评分、超声心动图和超声检查结果，最终通过严格随访实验室参数来跟踪动脉粥样硬化负担的程度。两名患者分别接受洛美他派治疗8年和5年，均未出现不良反应。当伴有良好的治疗依从性时，在标准降脂治疗基础上加用低剂量洛美他派并减少血脂分离的频率可预防动脉粥样硬化负担的进展。不依从可能是由于患者冲动以及不坚持低脂饮食所致。
