تقرير
Case report: Therapy adherence, MTTP variants, and course of atheroma in two patients with HoFH on low-dose, long-term lomitapide therapy.
| العنوان: | Case report: Therapy adherence, MTTP variants, and course of atheroma in two patients with HoFH on low-dose, long-term lomitapide therapy. |
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| المؤلفون: | Kayikcioglu M; Department of Cardiology, Ege University School of Medicine, Izmir, Turkey., Ozkan HS; Ege University School of Medicine, Izmir, Turkey., Yagmur B; Department of Cardiology, Ege University School of Medicine, Izmir, Turkey., Bayraktaroglu S; Department of Radiology, Ege University School of Medicine, Izmir, Turkey., Vardarli AT; Department of Medical Biology, Ege University School of Medicine, Izmir, Turkey. |
| المصدر: | Frontiers in genetics [Front Genet] 2023 Jan 04; Vol. 13, pp. 1087089. Date of Electronic Publication: 2023 Jan 04 (Print Publication: 2022). |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Lausanne : Frontiers Research Foundation. |
| مستخلص: | 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. Competing Interests: MK has received honoraria (for lectures and consultancy) from Abbott, Jansen, AstraZeneca, Abdi Ibrahim, Nova Nordisk, Novartis, and Sanovel; has received research funding from AstraZeneca, Amryt Pharma; and has participated in clinical trials with Amgen, Bayer Schering, LIB Therapeutics, Lilly, Novartis, and Medpace for the last 3 years. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2023 Kayikcioglu, Ozkan, Yagmur, Bayraktaroglu and Vardarli.) |
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| فهرسة مساهمة: | Keywords: MTTP; genetics; homozygous familial hypercholesterolemia; lipoprotein apheresis; lomitapide; low-density lipoprotein receptor |
| تواريخ الأحداث: | Date Created: 20230123 Latest Revision: 20230202 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC9845397 |
| DOI: | 10.3389/fgene.2022.1087089 |
| PMID: | 36685950 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1664-8021 |
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| DOI: | 10.3389/fgene.2022.1087089 |