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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dc.authoridOzkan, Hasan Selcuk/0000-0001-5282-6179
dc.authorscopusid57202353075
dc.authorscopusid57549113900
dc.authorscopusid57191909085
dc.authorscopusid23993736300
dc.authorscopusid56008738800
dc.contributor.authorKayikcioglu, Meral
dc.contributor.authorOzkan, Hasan Selcuk
dc.contributor.authorYagmur, Burcu
dc.contributor.authorBayraktaroglu, Selen
dc.contributor.authorVardarli, Asli Tetik
dc.date.accessioned2024-08-25T18:53:02Z
dc.date.available2024-08-25T18:53:02Z
dc.date.issued2023
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground: 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.en_US
dc.description.sponsorshipAmryt Pharmaceuticals DACen_US
dc.description.sponsorshipArticle processing charges were funded by Amryt Pharmaceuticals DAC. Amryt Pharmaceutical DAC was not involved in data analysis, the preparation of the manuscript, nor the decision to submit it for publication.en_US
dc.identifier.doi10.3389/fgene.2022.1087089
dc.identifier.issn1664-8021
dc.identifier.pmid36685950en_US
dc.identifier.scopus2-s2.0-85146393943en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.3389/fgene.2022.1087089
dc.identifier.urihttps://hdl.handle.net/11454/102951
dc.identifier.volume13en_US
dc.identifier.wosWOS:000917161300001en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherFrontiers Media Saen_US
dc.relation.ispartofFrontiers In Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz20240825_Gen_US
dc.subjectMTTPen_US
dc.subjectlomitapideen_US
dc.subjecthomozygous familial hypercholesterolemiaen_US
dc.subjectlipoprotein apheresisen_US
dc.subjectlow-density lipoprotein receptoren_US
dc.subjectgeneticsen_US
dc.subjectHomozygous Familial Hypercholesterolemiaen_US
dc.subjectTransfer Protein Inhibitoren_US
dc.subjectEfficacyen_US
dc.subjectSafetyen_US
dc.subjectLipoproteinen_US
dc.subjectManagementen_US
dc.titleCase report: Therapy adherence, MTTP variants, and course of atheroma in two patients with HoFH on low-dose, long-term lomitapide therapyen_US
dc.typeArticleen_US

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