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Efficacy of Lomitapide in the Treatment of Familial Homozygous Hypercholesterolemia: Results of a Real-World Clinical Experience in Italy



Homozygous 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.


Clinical 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.


The 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.


In 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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No sponsorship was received for conducting this study or for publication of this article. The article processing charges were funded by the authors. All named authors meet the International Committee of Medical Journal Editors (ICMJE) criteria for authorship for this manuscript, take responsibility for the integrity of the work as a whole and have given final approval to the version to be published. Laura D’Erasmo was receiving fellowship for PhD program in Biotechnology in Clinical Medicine from “Sapienza” University of Rome. Maurizio Averna have received grant 2010C4JJWB_004 “PRIN 2010 to 2011” from the Italian Ministry of Education, University and Research.


Maurizio Averna has received funding from Aegerion Pharmaceuticals Inc. as grant and personal fees. Angelo Baldassare Cefalu’ has received funding from Aegerion Pharmaceuticals Inc. as personal fees. Marcello Arca has received funding from Aegerion Pharmaceuticals Inc as grant and personal fees.

Laura D’Erasmo, Davide Noto, Antonina Giammanco, 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 and Fulvio Sileo have nothing to disclose.

Compliance With Ethics Guidelines

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1964, as revised in 2013. Informed consent was obtained from all patients for being included in the study.

Data Availability

All data generated or analyzed during this study are included in this published article and are original. All tables and figures are original and have been produced by the authors for this particular publication. The datasets generated during and/or analyzed during the current study are not publicly available due to the lack of a specific patients’ consent but are available from the corresponding author on reasonable request.

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Correspondence to Laura D’Erasmo.

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D’Erasmo, L., Cefalù, A.B., Noto, D. et al. Efficacy of Lomitapide in the Treatment of Familial Homozygous Hypercholesterolemia: Results of a Real-World Clinical Experience in Italy. Adv Ther 34, 1200–1210 (2017).

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  • Cholesterol-lowering effect
  • Clinical practice
  • Genetics
  • Lomitapide
  • Severe hypercholesterolemia