Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28-29 September 2023

Giovanni Ceccarini; Baris Akinci; David Araujo-Vilar; Marianna Beghini; Rebecca J Brown; Juan Carrion Tudela; Valeria Corradin; Bruno Donadille; Jose Jerez Ruiz; Isabelle Jeru; Giovanna Lattanzi; Margherita Maffei; George D McIlroy; Estelle Nobécourt; Naca Perez de Tudela; Justin J Rochford; Rebecca Sanders; Julia von Schnurbein; Daniel Tews; Marie-Christine Vantyghem; Camille Vatier; Corinne Vigouroux; Ferruccio Santini

doi:10.1016/j.ando.2024.03.002

Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28-29 September 2023

Ann Endocrinol (Paris). 2024 Mar 5:S0003-4266(24)00036-2. doi: 10.1016/j.ando.2024.03.002. Online ahead of print.

Authors

Giovanni Ceccarini¹, Baris Akinci², David Araujo-Vilar³, Marianna Beghini⁴, Rebecca J Brown⁵, Juan Carrion Tudela⁶, Valeria Corradin⁷, Bruno Donadille⁸, Jose Jerez Ruiz⁶, Isabelle Jeru⁹, Giovanna Lattanzi¹⁰, Margherita Maffei¹¹, George D McIlroy¹², Estelle Nobécourt¹³, Naca Perez de Tudela⁶, Justin J Rochford¹⁴, Rebecca Sanders¹⁵, Julia von Schnurbein¹⁶, Daniel Tews¹⁶, Marie-Christine Vantyghem¹⁷, Camille Vatier¹⁸, Corinne Vigouroux¹⁸, Ferruccio Santini¹⁹

Affiliations

¹ Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, Via Paradisa 2, 56124 Pisa, Italy. Electronic address: giovanni.ceccarini@unipi.it.
² DEPARK, Dokuz Eylul University & Izmir Biomedicine and Genome Center (IBG), Izmir, Turkey.
³ UETeM-Molecular Pathology of Rare Diseases Group. Department of Psychiatry, Radiology, Public Heath, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Spain.
⁴ Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, Vienna, Austria.
⁵ National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.
⁶ Spanish Federation for Rare Diseases, Asociación de Familiares y Afectados por Lipodistrofias, Spain.
⁷ Italian Association for Lipodystrophies, Italy.
⁸ Endocrinology Department, National Reference Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Assistance Publique-Hôpitaux de Paris (AP-HP), Saint-Antoine University Hospital, Paris, France.
⁹ Inserm UMR_S 938, Saint-Antoine Research Centre, Cardiometabolism and Nutrition University Hospital Institute (ICAN), Sorbonne University, Paris, France; Department of Genetics, Assistance Publique-Hôpitaux de Paris (AP-HP), La Pitié-Salpêtrière University Hospital, Paris, France.
¹⁰ CNR Institute of Molecular Genetics « Luigi Luca Cavalli-Sforza » Unit of Bologna, Bologna, Italy; IRCCS Rizzoli Orthopedic Institute, Bologna, Italy.
¹¹ National Research Council, Institute of Clinical Physiology, Pisa, Italy.
¹² The Rowett Institute, University of Aberdeen, Aberdeen AB25 2ZD, UK. Aberdeen Cardiovascular and Diabetes Centre, University of Aberdeen, Aberdeen AB25 2ZD, UK.
¹³ Diabète athérothrombose Océan Indien, Inserm UMR 1188 DéTROI, CHU/Université de La Réunion, 97410 Saint-Pierre, La Réunion.
¹⁴ The Rowett Institute and Aberdeen Cardiovascular and Diabetes Centre, University of Aberdeen, Aberdeen AB25 2ZD, UK.
¹⁵ Lipodystrophy UK, Oxford, UK.
¹⁶ Center for Rare Endocrine Diseases, Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany.
¹⁷ Department of Endocrinology, Diabetology, Metabolism and Nutrition CHU de Lille, Lille, France; Inserm U1190, European Genomic Institute for Diabetes (EGID), Lille University, 59000 Lille, France.
¹⁸ Endocrinology Department, National Reference Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Assistance Publique-Hôpitaux de Paris (AP-HP), Saint-Antoine University Hospital, Paris, France; Inserm UMR_S 938, Saint-Antoine Research Centre, Cardiometabolism and Nutrition University Hospital Institute (ICAN), Sorbonne University, Paris, France.
¹⁹ Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, Via Paradisa 2, 56124 Pisa, Italy.

PMID: 38452868
DOI: 10.1016/j.ando.2024.03.002

Abstract

Lipodystrophy syndromes are rare diseases primarily affecting the development or maintenance of the adipose tissue but are also distressing indirectly multiple organs and tissues, often leading to reduced life expectancy and quality of life. Lipodystrophy syndromes are multifaceted disorders caused by genetic mutations or autoimmunity in the vast majority of cases. While many subtypes are now recognized and classified, the disease remains remarkably underdiagnosed. The European Consortium of Lipodystrophies (ECLip) was founded in 2014 as a non-profit network of European centers of excellence working in the field of lipodystrophies aiming at promoting international collaborations to increase basic scientific understanding and clinical management of these syndromes. The network has developed a European Patient Registry as a collaborative research platform for consortium members. ECLip and ECLip registry activities involve patient advocacy groups to increase public awareness and to seek advice on research activities relevant from the patients perspective. The annual ECLip congress provides updates on the research results of various network groups members.

Keywords: Acanthosis nigricans; Adipogenesis; Caveolin; Gene therapy; Insulin resistance; Laminopathies; Leptin; Lipodystrophy syndromes; Metreleptin; NAFLD; PLAAT3; PPARγ; Perilipin; Registry; Seipin; Therapeutic education; VLDL1 secretion.

Publication types

Clinical Conference