Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28–29 September 2023 - 14/07/24

Doi : 10.1016/j.ando.2024.03.002

Giovanni Ceccarini ^a,^⁎ , Baris Akinci ^b, David Araujo-Vilar ^c, Marianna Beghini ^d, Rebecca J. Brown ^e, Juan Carrion Tudela ^f, Valeria Corradin ^g, Bruno Donadille ^h, Jose Jerez Ruiz ^f, Isabelle Jeru ^i,^j, Giovanna Lattanzi ^k,^l, Margherita Maffei ^m, George D. McIlroy ⁿ, Estelle Nobécourt ^o, Naca Perez de Tudela ^f, Justin J. Rochford ^p, Rebecca Sanders ^q, Julia von Schnurbein ^r, Daniel Tews ^r, Marie-Christine Vantyghem ^s,^t, Camille Vatier ^h,ⁱ, Corinne Vigouroux ^h,ⁱ, Ferruccio Santini ^a
^a Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, Via Paradisa 2, 56124 Pisa, Italy
^b DEPARK, Dokuz Eylul University & Izmir Biomedicine and Genome Center (IBG), Izmir, Turkey
^c UETeM-Molecular Pathology of Rare Diseases Group. Department of Psychiatry, Radiology, Public Heath, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Spain
^d Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, Vienna, Austria
^e National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA
^f Spanish Federation for Rare Diseases, Asociación de Familiares y Afectados por Lipodistrofias, Spain
^g Italian Association for Lipodystrophies, Italy
^h 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
ⁱ Inserm UMR_S 938, Saint-Antoine Research Centre, Cardiometabolism and Nutrition University Hospital Institute (ICAN), Sorbonne University, Paris, France
^j Department of Genetics, Assistance Publique–Hôpitaux de Paris (AP–HP), La Pitié-Salpêtrière University Hospital, Paris, France
^k CNR Institute of Molecular Genetics « Luigi Luca Cavalli-Sforza » Unit of Bologna, Bologna, Italy
^l IRCCS Rizzoli Orthopedic Institute, Bologna, Italy
^m National Research Council, Institute of Clinical Physiology, Pisa, Italy
ⁿ The Rowett Institute, University of Aberdeen, Aberdeen AB25 2ZD, UK. Aberdeen Cardiovascular and Diabetes Centre, University of Aberdeen, Aberdeen AB25 2ZD, UK
^o Diabète athérothrombose Océan Indien, Inserm UMR 1188 DéTROI, CHU/Université de La Réunion, 97410 Saint-Pierre, La Réunion
^p The Rowett Institute and Aberdeen Cardiovascular and Diabetes Centre, University of Aberdeen, Aberdeen AB25 2ZD, UK
^q Lipodystrophy UK, Oxford, UK
^r Center for Rare Endocrine Diseases, Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany
^s Department of Endocrinology, Diabetology, Metabolism and Nutrition CHU de Lille, Lille, France
^t Inserm U1190, European Genomic Institute for Diabetes (EGID), Lille University, 59000 Lille, France

^⁎Corresponding author. Obesity and Lipodystrophy Center, Endocrine Unit, University Hospital of Pisa, Via Paradisa 2, 56124 Pisa, PI, Italy.Clinical and Experimental Medicine, Obesity and Lipodystrophy Center University Hospital of PisaVia Paradisa 2Pisa56124Italy

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.

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

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Introduction

Abstracts of the ECLip meeting, Pisa, 2023

Nuclear envelope-linked lipodystrophies

Defining the effects of GLP-1 receptor agonists in lipodystrophy

Loss of PLAAT3 phospholipase induces a mixed lipodystrophic and neurological syndrome due to an alteration of the PPARγ signaling pathway

Molecular basis of acanthosis nigricans in genetic syndromes of severe insulin resistance

Short stature, lipodystrophic syndrome, and cilia defects: clinical and cellular findings

Results and conclusions of the first study of quality of life in patients with lipodystrophy in Europe and Iberoamerica

Activities of Lipodystrophy UK

Activities of Ailip Italy

The adipocyte response to ionizing radiations

Assessing tissue-specific gene therapies in a pre-clinical mouse model of lipodystrophy

Leptin secretion from human adipocytes is dependent on glucose availability

A single subcutaneous injection of recombinant leptin increases hepatic triglyceride secretion in patients with lipodystrophy

Referral of patients with rare insulin-resistance syndromes to a national reference center for rare diseases: key milestones assessed from the french national rare disease database

Dunnigan lipodystrophy in Reunion Island: an exceptional prevalence

National recommendations for diagnosis and care of Dunnigan syndrome and congenital generalized lipodystrophy, and educational initiatives: recent achievements from the French lipodystrophy network

Barraquer-Simons syndrome our (shared) experience

Natural history of generalized lipodystrophy following early vs. Late metreleptin treatment

Clinical factors leading to serious morbidity and mortality in congenital generalized lipodystrophy type 4

Immunophenotype of PLIN1-mutated patients compared to LMNA-mutated subjects, obese and healthy controls

Current status of the ECLip registry 2023

Conclusion and perspectives

Disclosure of interest

Ethics

Acknowledgments and funding

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Vol 85 - N° 4

P. 308-316 - juillet 2024 Retour au numéro

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Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28–29 September 2023 - 14/07/24

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