PDF(Pubmed)
Abstract：
Background: 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 LDLR; however, herein, we present two cases with concomitant microsomal triglyceride transfer protein mutations, who showed different clinical courses and treatment adherence on long-term therapy with the new MTTP inhibitor lomitapide. Objectives: 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. Methods: We present two patients with phenotypically Homozygous familial hypercholesterolemia, a compound heterozygous woman and a simple homozygous man, both with LDLR and additional MTTP mutations, who were treated with the MTTP-inhibiting agent lomitapide, with different treatment compliances. The role of impulsivity was investigated through Barratt Impulsivity Scale 11, 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. Conclusion: 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.
摘要：
背景：纯合子家族性高胆固醇血症（HoFH）是一种罕见且破坏性的遗传病，其特征是低密度脂蛋白胆固醇（LDL-C）水平极高，导致过早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表现为LDLR突变；然而，在这里，我们介绍了两个伴随微粒体甘油三酯转移蛋白突变的病例，他们在使用新的MTTP抑制剂lomitapide的长期治疗中表现出不同的临床疗程和治疗依从性。目的：我们的目的是提出在低剂量洛米沙得治疗的纯合子家族性高胆固醇血症患者中，通过有效和安全的LDL-C降低来预防动脉粥样硬化负荷进展的可能性，并强调治疗依从性在治疗成功中的作用。方法：我们介绍了两名表型纯合型家族性高胆固醇血症患者，一个复合杂合女人和一个简单的纯合男人，LDLR和额外的MTTP突变，他们接受了MTTP抑制剂洛米他必特的治疗，不同的治疗依从性。通过Barratt冲动性量表11研究冲动性的作用，并使用冠状动脉钙评分随访动脉粥样硬化负担的程度，超声心动图和超声检查结果，and,最终,通过严格的实验室参数跟踪。患者服用洛米他必特8年和5年，分别,没有不良影响。结论：当伴有良好的治疗依从性时，在标准降脂治疗的基础上,低剂量洛米齐特降低了脂质单采术的频率,从而阻止了动脉粥样硬化负担的进展.由于患者的冲动和不坚持低脂饮食，可能会发生不合规。
