ESPE2022 Rapid Free Communications Fat, Metabolism and Obesity (6 abstracts)
European Consortium of Lipodystrophies Registry, 2022
Julia von Schnurbein 1 , Alessandra Gambinieri 2 , Antia Fernández-Pombo 3 , Baris Akinci 4 , Camille Vatier 5 , Carolina Cecchetti 2 , Cem Adiyaman 4 , Corrine Vigoroux 5 , David Araujo-Vilar 3 , David Savage 6 , Donatella Gilio 7 , Elise Bismuth 8 , Ekaterina Sorkina 9 , Elena Vorona 10 , Ermelinda Santos Silva 11 , Estelle Nobecourt 12 , Eva Csajbok 13 , Ferrucio Santini 7 , Flavia Prodam 14 , Gabriele Nagel 15 , Gianluca Aimaretti 14 , Giovanna Latanzi 2 , Giovanni Ceccarini 7 , Giuseppe Novelli 16 , Ilgin Yildirim Simsir 17 , Isabelle Jeru 5 , Iztok Štotl 18 , Jean-Claude Carel 8 , Karin Writzl 18 , Katrin Heldt 19 , Konstanze Miehle 20 , Lotte Kleinendorst 21 , Maria-Rosaria D’Apice 16 , Mariana Beghini 22 , Marie-Christine Vantyghem 23 , Marjoleine Broekema 21 , Mathias Faßhauer 20 , Michael Stumvoll 20 , Paolo Sbraccia 16 , Samim Ozen 24 , Silvia Magno 25 , Thomas Scherer 22 , Thomaso Daffara 14 , Zafer Pekkolay 26 & Martin Wabitsch 1
1Ulm University Hospital, Ulm, Germany; 2, S. Orsola-Malpighi Hospital, Bologna, Italy; 3Santiago de Compostela University, Santiago de Compostella, Spain; 4Dokuz Eylul University School of Medicine, Izmir, Turkey; 5Pierre et Marie Curie School of Medicine, Centre de Recherche Saint-Antoine, Paris, France; 6University of Cambridge Metabolic Research Laboratories, Cambridge, United Kingdom; 7University Hospital of Pisa, Pisa, Italy; 8Hôpital Universitaire Robert-Debré, Paris, France; 9Endocrinology Research Centre, Moscow, Russian Federation; 10Med. Klinik B für Gastroenterologie und Hepatologie Universitätsklinikum Münster, Münster, Germany; 11Instituto de Ciências Biomédicas Abel Salazar, Porto, Portugal; 12Centre Hospitalier Universitaire de La Réunion, La Réunion, France; 13University of Szeged, Budapest, Hungary; 14Università del Piemonte Orientale, Novara, Italy; 15Ulm University, Ulm, Germany; 16Tor Vergata University - Policlinico of Tor Vergata, Rome, Italy; 17Ege University Endocrinology, Izmir, Turkey; 18University Medical Centre Ljubljana, Ljubljana, Slovenia; 19Stiftung Ostschweizer Kinderspital, St. Gallen, Switzerland; 20University of Leipzig, Leipzig, Germany; 21Amsterdam UMC, Amsterdam, Netherlands; 22Medical University of Vienna, Vienna, Austria; 23Lille University, Lille, France; 24Ege University Pediatric Endocrinology, Izmir, Turkey; 25Hospital of Pisa, Pisa, Italy; 26Dicle University Endocrinology, Dicle, Turkey
Background: Lipodystrophy syndromes comprise a large group of extremely rare diseases characterized by loss or dysfunction of adipose tissue. Due to their extreme rarity and variability, research in the field of lipodystrophy is difficult for single centres warranting larger co-operations.
Methods: Therefore, the European Consortium of Lipodystrophies decided to found an international registry in 2016. This registry is based on an open-source software “OSSE” specifically designed for multicentre international registries for rare diseases, covering all aspects of General Data Protection Regulation (EU) of May 25, 2018. The registry has been registered at clinical trials (ClinicalTrials.gov ID: NCT03553420) and EURECA.
Results: Since the end of 2017, the registry is actively recruiting patients. Currently, 23 centres in Europe and neighbouring country are participating in the registry, 17 of which are recruiting patients. Until March 22, 517 patients with lipodystrophy have been included in the registry, of which 80% are female and 83% adults with a mean age of 38.7 years (36.8-40.6). However, 17.2% are younger than 18 years of age; 12.4% even younger than 14 years of age. The predominant diagnosis is familial partial lipodystrophy (FPLD) 2 (39%), followed by FPLD1 (11%), congenital generalized lipodystrophy (CGL) 1 (8%), Barraquer Simons Syndrome (7%). 30 different diagnosis are documented in the registry all together. Nearly 80% of the patients suffer from dyslipidaemia; diabetes mellitus and fatty liver are each diagnosed in 55% of all patients, hypertension in 35% of all patients. 23.5% of all patients have a polycystic ovary syndrome. Steatohepatitis and albuminuria are documented each in 15% of the patients. Muscular and cardiac co-morbidities are rarer, however, 16% of all patients reported muscular pain/myalgia; and hypertrophic cardiomyopathy, ischemic cardiomyopathy and hypertrophic cardiomyopathy are each found in 8-11% of the patients.
Conclusion: Our results highlight the high burden of co-morbidities especially metabolic problems in this patient group. As we have assembled the word-wide largest collection of patients with lipodystrophy, we will have the unique possibility in the future to analyse the natural course and also treatment outcomes in this vulnerable group of patients.
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