New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience
Familial hypercholesterolemia (FH) is a genetic disease, usually with onset during childhood, characterized by elevated blood LDL cholesterol levels and potentially associated with severe cardiovascular complications. Concerning mutated genes in FH, such as LDLR, a small subset of FH patients presen...
Saved in:
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2024-12-01
|
| Series: | Frontiers in Endocrinology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2024.1515846/full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1846110541478625280 |
|---|---|
| author | Gabriella Iannuzzo Ilenia Lorenza Calcaterra Marco Gentile Claudia Stanzione Francesca de Ruberto Maria Donata di Taranto Giovanna Cardiero Giuliana Fortunato Matteo Di Minno |
| author_facet | Gabriella Iannuzzo Ilenia Lorenza Calcaterra Marco Gentile Claudia Stanzione Francesca de Ruberto Maria Donata di Taranto Giovanna Cardiero Giuliana Fortunato Matteo Di Minno |
| author_sort | Gabriella Iannuzzo |
| collection | DOAJ |
| description | Familial hypercholesterolemia (FH) is a genetic disease, usually with onset during childhood, characterized by elevated blood LDL cholesterol levels and potentially associated with severe cardiovascular complications. Concerning mutated genes in FH, such as LDLR, a small subset of FH patients presents a homozygous genotype, resulting in homozygous FH (HoFH) disease with a generally aggressive phenotype. Besides statins, ezetimibe and PCSK9 inhibitors, lomitapide (an anti-ApoB therapy) was also approved in 2012–2013 as an adjunctive treatment for HoFH. Despite its clinical efficacy, lomitapide administration should be done with caution because of the possible occurrence of side effects, such as hepatosteatosis, increased blood transaminase levels and gastrointestinal symptoms, as well as the possible deleterious interactions with other drugs. In this context, we decided to report the main available evidence on the management and monitoring of HoFH patients treated with lomitapide and to accompany this literature review with a description of our clinical experience with a subset of six HoFH patients. In conclusion, this paper aims to address an important topic for HoFH-related clinical practice that, to our knowledge, is not yet formally regulated by proper national and/or international guidelines. |
| format | Article |
| id | doaj-art-6e844ef8b6d947a6afa027a753df2cb6 |
| institution | Kabale University |
| issn | 1664-2392 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj-art-6e844ef8b6d947a6afa027a753df2cb62024-12-24T05:10:36ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922024-12-011510.3389/fendo.2024.15158461515846New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experienceGabriella Iannuzzo0Ilenia Lorenza Calcaterra1Marco Gentile2Claudia Stanzione3Francesca de Ruberto4Maria Donata di Taranto5Giovanna Cardiero6Giuliana Fortunato7Matteo Di Minno8Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Naples, ItalyDepartment of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Naples, ItalyDepartment of Molecular Medicine and Medical Biotechnologies, CEINGE Advanced Biotechnologies S.C. A.R.L, University of Naples Federico II, Naples, ItalyDepartment of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Naples, ItalyDepartment of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Naples, ItalyDepartment of Molecular Medicine and Medical Biotechnologies, CEINGE Advanced Biotechnologies S.C. A.R.L, University of Naples Federico II, Naples, ItalyDepartment of Molecular Medicine and Medical Biotechnologies, CEINGE Advanced Biotechnologies S.C. A.R.L, University of Naples Federico II, Naples, ItalyDepartment of Molecular Medicine and Medical Biotechnologies, CEINGE Advanced Biotechnologies S.C. A.R.L, University of Naples Federico II, Naples, ItalyDepartment of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Naples, ItalyFamilial hypercholesterolemia (FH) is a genetic disease, usually with onset during childhood, characterized by elevated blood LDL cholesterol levels and potentially associated with severe cardiovascular complications. Concerning mutated genes in FH, such as LDLR, a small subset of FH patients presents a homozygous genotype, resulting in homozygous FH (HoFH) disease with a generally aggressive phenotype. Besides statins, ezetimibe and PCSK9 inhibitors, lomitapide (an anti-ApoB therapy) was also approved in 2012–2013 as an adjunctive treatment for HoFH. Despite its clinical efficacy, lomitapide administration should be done with caution because of the possible occurrence of side effects, such as hepatosteatosis, increased blood transaminase levels and gastrointestinal symptoms, as well as the possible deleterious interactions with other drugs. In this context, we decided to report the main available evidence on the management and monitoring of HoFH patients treated with lomitapide and to accompany this literature review with a description of our clinical experience with a subset of six HoFH patients. In conclusion, this paper aims to address an important topic for HoFH-related clinical practice that, to our knowledge, is not yet formally regulated by proper national and/or international guidelines.https://www.frontiersin.org/articles/10.3389/fendo.2024.1515846/fullHoFHhypercholesterolemialomitapidemanagementmonitoring |
| spellingShingle | Gabriella Iannuzzo Ilenia Lorenza Calcaterra Marco Gentile Claudia Stanzione Francesca de Ruberto Maria Donata di Taranto Giovanna Cardiero Giuliana Fortunato Matteo Di Minno New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience Frontiers in Endocrinology HoFH hypercholesterolemia lomitapide management monitoring |
| title | New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience |
| title_full | New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience |
| title_fullStr | New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience |
| title_full_unstemmed | New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience |
| title_short | New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience |
| title_sort | new insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide a single center experience |
| topic | HoFH hypercholesterolemia lomitapide management monitoring |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2024.1515846/full |
| work_keys_str_mv | AT gabriellaiannuzzo newinsightsintothemanagementofhomozygousfamilialhypercholesterolemiapatientstreatedwithlomitapideasinglecenterexperience AT ilenialorenzacalcaterra newinsightsintothemanagementofhomozygousfamilialhypercholesterolemiapatientstreatedwithlomitapideasinglecenterexperience AT marcogentile newinsightsintothemanagementofhomozygousfamilialhypercholesterolemiapatientstreatedwithlomitapideasinglecenterexperience AT claudiastanzione newinsightsintothemanagementofhomozygousfamilialhypercholesterolemiapatientstreatedwithlomitapideasinglecenterexperience AT francescaderuberto newinsightsintothemanagementofhomozygousfamilialhypercholesterolemiapatientstreatedwithlomitapideasinglecenterexperience AT mariadonataditaranto newinsightsintothemanagementofhomozygousfamilialhypercholesterolemiapatientstreatedwithlomitapideasinglecenterexperience AT giovannacardiero newinsightsintothemanagementofhomozygousfamilialhypercholesterolemiapatientstreatedwithlomitapideasinglecenterexperience AT giulianafortunato newinsightsintothemanagementofhomozygousfamilialhypercholesterolemiapatientstreatedwithlomitapideasinglecenterexperience AT matteodiminno newinsightsintothemanagementofhomozygousfamilialhypercholesterolemiapatientstreatedwithlomitapideasinglecenterexperience |