| Title: |
Contemporary Management of Familial and Multifactorial Chylomicronemia Syndromes in Italy: Insights From the National Lipigen Registry |
| Authors: |
D'Erasmo, Laura; Tramontano, Daniele; Di Costanzo, Alessia; Casula, Manuela; Galimberti, Federica; Baratta, Francesco; Cefalù, Angelo Baldassare; Tarugi, Patrizia; Calandra, Sebastiano; Zambon, Alberto; Averna, Maurizio; Catapano, Alberico Luigi; Arca, Marcello; Banderali, Giuseppe; Bartuli, Andrea; Beccuti, Guglielmo; Benso, Andrea; Bianconi, Vanessa; Bini, Simone; Biolo, Marta; Sabrina Buonuomo, Paola; D'Addato, Sergio; Dal Pino, Beatrice; Di Minno, Matteo; Donata Di Taranto, Maria; Fainelli, Giulia; Giuliana, Fortunato; Giammanco, Antonina; Grigore, Liliana; Iannuzzo, Gabriella; Lago, Jessica; Lugari, Simonetta; Mandraffino, Giuseppe; Minicocci, Ilenia; Mombelli, Giuliana; Montalcini, Tiziana; Nascimbeni, Fabio; Noto, Davide; Pavanello, Chiara; Pederiva, Cristina; Pellegatta, Fabio; Piro, Salvatore; Pirro, Matteo; Pujia, Arturo; Rizzi, Luigi; Sbrana, Francesco; Scicali, Roberto; Suppressa, Patrizia; Toscano, Arianna; Zambon, Sabina; Grazia Zenti, Maria |
| Contributors: |
L. D'Erasmo; D. Tramontano; A. Di Costanzo; M. Casula; F. Galimberti; F. Baratta; A.B. Cefalù; P. Tarugi; S. Calandra; A. Zambon; M. Averna; A.L. Catapano; M. Arca; G. Banderali; A. Bartuli; G. Beccuti; A. Benso; V. Bianconi; S. Bini; M. Biolo; P. Sabrina Buonuomo; S. D'Addato; B. Dal Pino; M. Di Minno; M. Donata Di Taranto; G. Fainelli; F. Giuliana; A. Giammanco; L. Grigore; G. Iannuzzo; J. Lago; S. Lugari; G. Mandraffino; I. Minicocci; G. Mombelli; T. Montalcini; F. Nascimbeni; D. Noto; C. Pavanello; C. Pederiva; F. Pellegatta; S. Piro; M. Pirro; A. Pujia; L. Rizzi; F. Sbrana; R. Scicali; P. Suppressa; A. Toscano; S. Zambon; M. Grazia Zenti |
| Publisher Information: |
Wolters Kluwer |
| Publication Year: |
2025 |
| Collection: |
The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| Subject Terms: |
genetic; hypertriglyceridemia; lipid; pancreatiti; triglyceride; Settore BIOS-11/A - Farmacologia; Settore MEDS-05/A - Medicina interna; Settore BIOS-07/A - Biochimica; Settore MEDS-01/A - Genetica medica |
| Description: |
Background: We aimed to compare the molecular and clinical characteristics of patients identified in Italy as affected by either familial chylomicronemia syndrome (FCS) or multifactorial chylomicronemia syndrome (MCS) and to assess the overall benefit of novel triglyceride-lowering therapies prescribed to these patients within the routine clinical care. Methods: From the national LIPIGEN-sHTG (Lipid Transport Disorders Italian Genetic Network-Severe Hypertriglyceridemia) registry, 169 patients (57 FCS, 51 MCS, 61 variant-negative, variant-negative MCS) were retrospectively analyzed. Data on clinical and genetic characteristics, medical history, and medications were collected. Peak triglyceride levels were used to define untreated lipid phenotypes. Results: In FCS, 72% exhibited biallelic LPL and 28% non-LPL variants; in MCS, 38% (n=19) carried LPL variants, and 38% (n=19) carried APOA5 variants, whereas the remaining individuals were carriers of LMF1 (n=3), GPIHBP1 (n=2), and CREB3L3 or GPD1 variants (n=8), respectively. Peak TGs were highest in FCS (3000 mg/dL [interquartile range, 2116.0-4265.0]), followed by MCS (1817 mg/dL [interquartile range, 1370.0-3062.0]) and variant-negative MCS (1340.0 mg/dL [interquartile range, 946.5-2508.5]; P |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/41099101; info:eu-repo/semantics/altIdentifier/wos/WOS:001620754800008; firstpage:1; lastpage:13; numberofpages:13; journal:ARTERIOSCLEROSIS, THROMBOSIS, AND VASCULAR BIOLOGY; https://hdl.handle.net/2434/1189487 |
| DOI: |
10.1161/atvbaha.125.323340 |
| Availability: |
https://hdl.handle.net/2434/1189487; https://doi.org/10.1161/atvbaha.125.323340 |
| Rights: |
info:eu-repo/semantics/openAccess ; license:Creative commons ; license uri:http://creativecommons.org/licenses/by-sa/4.0/ |
| Accession Number: |
edsbas.DC9A3BBE |
| Database: |
BASE |