Orphanet Journal of Rare Diseases (Sep 2021)
Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey
- Laura D’Erasmo,
- Antonio Gallo,
- Angelo Baldassare Cefalù,
- Alessia Di Costanzo,
- Samir Saheb,
- Antonina Giammanco,
- Maurizio Averna,
- Alessio Buonaiuto,
- Gabriella Iannuzzo,
- Giuliana Fortunato,
- Arturo Puja,
- Tiziana Montalcini,
- Chiara Pavanello,
- Laura Calabresi,
- Giovanni Battista Vigna,
- Marco Bucci,
- Katia Bonomo,
- Fabio Nota,
- Tiziana Sampietro,
- Francesco Sbrana,
- Patrizia Suppressa,
- Carlo Sabbà,
- Fabio Fimiani,
- Arturo Cesaro,
- Paolo Calabrò,
- Silvia Palmisano,
- Sergio D’Addato,
- Livia Pisciotta,
- Stefano Bertolini,
- Randa Bittar,
- Olga Kalmykova,
- Sophie Béliard,
- Alain Carrié,
- Marcello Arca,
- Eric Bruckert
Affiliations
- Laura D’Erasmo
- Department of Translational and Precision Medicine, Sapienza University of Rome
- Antonio Gallo
- Department of Endocrinology and Cardiovascular Disease Prevention, Assistance Publique-Hôpitaux de Paris, La Pitié-Salpêtrière Hospital, Sorbonne University
- Angelo Baldassare Cefalù
- Dipartimento di Promozione Della Salute, Materno Infantile, Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro” (PROMISE), Università Degli Studi Di Palermo
- Alessia Di Costanzo
- Department of Translational and Precision Medicine, Sapienza University of Rome
- Samir Saheb
- Department of Endocrinology and Cardiovascular Disease Prevention, Assistance Publique-Hôpitaux de Paris, La Pitié-Salpêtrière Hospital, Sorbonne University
- Antonina Giammanco
- Dipartimento di Promozione Della Salute, Materno Infantile, Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro” (PROMISE), Università Degli Studi Di Palermo
- Maurizio Averna
- Dipartimento di Promozione Della Salute, Materno Infantile, Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro” (PROMISE), Università Degli Studi Di Palermo
- Alessio Buonaiuto
- Department of Clinical Medicine and Surgery, Federico II University
- Gabriella Iannuzzo
- Department of Clinical Medicine and Surgery, Federico II University
- Giuliana Fortunato
- Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II
- Arturo Puja
- Department of Medical and Surgical Sciences, University Magna Graecia
- Tiziana Montalcini
- Department of Medical and Surgical Sciences, University Magna Graecia
- Chiara Pavanello
- Centro Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università Degli Studi di Milano
- Laura Calabresi
- Centro Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università Degli Studi di Milano
- Giovanni Battista Vigna
- Medical Department, Azienda Ospedaliero-Universitaria di Ferrara
- Marco Bucci
- Dipartimento di Medicina e Scienze Dell’Invecchiamento, Università Degli Studi “G. d’annunzio” di Chieti
- Katia Bonomo
- Metabolic Disease and Diabetes Unit, AOU San Luigi Gonzaga, Orbassano’
- Fabio Nota
- Metabolic Disease and Diabetes Unit, AOU San Luigi Gonzaga, Orbassano’
- Tiziana Sampietro
- Lipoapheresis Unit-Reference Center for Diagnosis and Treatment of Inherited Dyslipidemias, Fondazione Toscana “Gabriele Monasterio”
- Francesco Sbrana
- Lipoapheresis Unit-Reference Center for Diagnosis and Treatment of Inherited Dyslipidemias, Fondazione Toscana “Gabriele Monasterio”
- Patrizia Suppressa
- Department of Internal Medicine and Rare Disease Centre “C.Frugoni”, University Hospital of Bari “A. Moro”
- Carlo Sabbà
- Department of Internal Medicine and Rare Disease Centre “C.Frugoni”, University Hospital of Bari “A. Moro”
- Fabio Fimiani
- Division of Clinical Cardiology, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”
- Arturo Cesaro
- Division of Clinical Cardiology, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”
- Paolo Calabrò
- Division of Clinical Cardiology, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”
- Silvia Palmisano
- Hypertension and Atherosclerosis Research Group, Medical and Surgical Sciences Department, Sant’Orsola-Malpighi University Hospital
- Sergio D’Addato
- Hypertension and Atherosclerosis Research Group, Medical and Surgical Sciences Department, Sant’Orsola-Malpighi University Hospital
- Livia Pisciotta
- Department of Internal Medicine, University of Genoa
- Stefano Bertolini
- Department of Internal Medicine, University of Genoa
- Randa Bittar
- Inserm, Institute of Cardiometabolism and Nutrition (ICAN), UMR_S1166, Department of Metabolic Biochemistry, Assistance Publique, Hôpitaux de Paris, Hôpital de La Pitié-Salpêtrière, Sorbonne University
- Olga Kalmykova
- Department of Endocrinology and Cardiovascular Disease Prevention, Assistance Publique-Hôpitaux de Paris, La Pitié-Salpêtrière Hospital, Sorbonne University
- Sophie Béliard
- Aix Marseille University, INSERM, INRA, C2VN
- Alain Carrié
- Inserm, Institute of Cardiometabolism and Nutrition (ICAN), UMR_S1166, APHP, Department of Biochemistry, Obesity and Dyslipidemia Genetics Unit, Hôpital de La Pitié, Sorbonne University
- Marcello Arca
- Department of Translational and Precision Medicine, Sapienza University of Rome
- Eric Bruckert
- Department of Endocrinology and Cardiovascular Disease Prevention, Assistance Publique-Hôpitaux de Paris, La Pitié-Salpêtrière Hospital, Sorbonne University
- DOI
- https://doi.org/10.1186/s13023-021-01999-8
- Journal volume & issue
-
Vol. 16,
no. 1
pp. 1 – 12
Abstract
Abstract Background Homozygous familial hypercholesterolemia (HoFH) is a rare life-threatening condition that represents a therapeutic challenge. The vast majority of HoFH patients fail to achieve LDL-C targets when treated with the standard protocol, which associates maximally tolerated dose of lipid-lowering medications with lipoprotein apheresis (LA). Lomitapide is an emerging therapy in HoFH, but its place in the treatment algorithm is disputed because a comparison of its long-term efficacy versus LA in reducing LDL-C burden is not available. We assessed changes in long-term LDL-C burden and goals achievement in two independent HoFH patients’ cohorts, one treated with lomitapide in Italy (n = 30) and the other with LA in France (n = 29). Results The two cohorts differed significantly for genotype (p = 0.004), baseline lipid profile (p < 0.001), age of treatment initiation (p < 0.001), occurrence of cardiovascular disease (p = 0.003) as well as follow-up duration (p < 0.001). The adjunct of lomitapide to conventional lipid-lowering therapies determined an additional 58.0% reduction of last visit LDL-C levels, compared to 37.1% when LA was added (p adj = 0.004). Yearly on-treatment LDL-C < 70 mg/dl and < 55 mg/dl goals were only achieved in 45.5% and 13.5% of HoFH patients treated with lomitapide. The long-term exposure to LDL-C burden was found to be higher in LA than in Lomitapide cohort (13,236.1 ± 5492.1 vs. 11,656.6 ± 4730.9 mg/dL-year respectively, p adj = 0.002). A trend towards fewer total cardiovascular events was observed in the Lomitapide than in the LA cohort. Conclusions In comparison with LA, lomitapide appears to provide a better control of LDL-C in HoFH. Further studies are needed to confirm this data and establish whether this translates into a reduction of cardiovascular risk.
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