Efficacy of Lomitapide in the Treatment of Familial Homozygous Hypercholesterolemia: Results of a Real-World Clinical Experience in Italy |
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| Authors: | Laura D’Erasmo Angelo Baldassare Cefalù Davide Noto Antonina Giammanco Maurizio Averna Paolo Pintus Paolo Medde Giovanni Battista Vigna Cesare Sirtori Laura Calabresi Chiara Pavanello Marco Bucci Carlo Sabbà Patrizia Suppressa Francesco Natale Paolo Calabrò Tiziana Sampietro Federico Bigazzi Francesco Sbrana Katia Bonomo Fulvio Sileo Marcello Arca |
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| Affiliation: | 1.Department of Internal Medicine and Clinical Specialties,Policlinico Umberto 1, “Sapienza” University of Rome,Rome,Italy;2.Dipartimento Biomedico di Medicina Interna e Specialistica,Università di Palermo,Palermo,Italy;3.Dipartimento Internistico,Centro per le Malattie Dismetaboliche e l’Arteriosclerosi,Cagliari,Italy;4.Medical Department,Azienda Ospedaliera-Universitaria di Ferrara,Ferrara,Italy;5.Center E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari,Università degli Studi di Milano, and Dyslipidemia Center, Niguarda Hospital,Milan,Italy;6.Geriatric Clinic, European Center of Excellence on Atherosclerosis, Hypertension and Dyslipidemia,University of Chieti,Chieti,Italy;7.Department of Interdisciplinary Medicine, Geriatric Unit and Rare Disease Center,“Aldo Moro”, University of Bari,Bari,Italy;8.Department of Cardio-Thoracic and Respiratory Sciences,Università della Campania “L. Vanvitelli”-Ospedale dei Colli,Naples,Italy;9.U.O. Lipoapheresis and Center for Inherited Dyslipidemias,Fondazione Toscana Gabriele Monasterio,Pisa,Italy;10.Division of Internal Medicine,San Luigi Gonzaga Hospital Orbassano,Orbassano,Italy;11.Divisione Endocrinologica,Ospedali Riuniti,Bergamo,Italy |
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| Abstract: | IntroductionHomozygous familial hypercholesterolaemia (HoFH) is a rare form of inherited dyslipidemia resistant to conventional cholesterol-lowering medications so that lipoprotein apheresis (LA) is usually required. Lomitapide has been approved for the treatment of HoFH. The aim of this study was to evaluate the benefits of lomitapide in HoFH patients followed with the usual clinical care.MethodsClinical and biochemical data were retrospectively collected in 15 HoFH patients (10 with mutations in the LDLR gene and 5 in the LDLRAP1 gene) treated for at least 6 months with lomitapide in addition to lipid-lowering therapies (LLT) in different Lipid Clinics across Italy.ResultsThe mean follow-up period was 32.3 ± 29.7 months. During background therapies, HoFH patients showed a mean LDL-C level of 426.0 ± 204.0 mg/dl. The addition of lomitapide at the average dosage of 19 mg/day lowered LDL-C levels by 68.2 ± 24.8%. At their last visit, 60% of patients showed LDL-C <100 mg/dl and 46.6% <70 mg/dl. During follow-up, 8 of 10 patients receiving LA (80%) stopped this treatment due to marked LDL-C reduction. A wide range (13–95%) of individual LDL-C reduction was observed, but this was not related to genotype. During follow-up, 53.3% of patients reported at least one episode of diarrhea, but none was referred as severe; none had liver transaminase >5× ULN or had to stop treatment due to side effects. A subset of patients was evaluated by liver ultrasound and fibroscan (n = 5) or nuclear magnetic resonance with spectroscopy (MRS) (n = 1) not showing clinical evidence of liver damage.ConclusionIn this real-world experience, lomitapide was confirmed to be a very powerful cholesterol-lowering agent in HoFH showing a good safety profile. |
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