ESPE2024 Free Communications Fat, Metabolism and Obesity 1 (6 abstracts)
First cross sectional analysis of the eclip registry
Julia von Schnurbein 1 , Gabriele Nagel 2 , Baris Akinci 3 , Marjoleine Broekma 4 , Eva Csajbok 5 , Maria Rosaria D'Apice 6 , Alessandra Gambineri 7 , Kathrin Heldt 8 , Lotte Kleinendorst 4 , Giovanna Lattanzi 9 , Konstanze Miehle 10 , Flavia Prodami 11 , Ferruccio Santini 12 , Ermelinda Santos Silva 13 , David B Savage 14 , Thomas Scherer 15 , Paolo Sbraccia 16 , Ekaterina Sorkina 17,18 , Iztok Štotl 19 , Marie-Christine Vantyghem 20 , Corinne Vigouroux 21 , Elena Vorona 22 , David Araújo-Vilar 23 , Martin Wabitsch 1 , Camille Vatier 21 & Giovanni Ceccarini 12
1Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, Ulm University Medical Centre, Ulm, Germany. 2Institute of Epidemiology and Medical Biometry, Ulm University, Ulm, Germany. 3DEPARK, Dokuz Eylul University Health Campus & Izmir Biomedicine and Genome Center (IBG), Izmir, Turkey. 4Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands. 5Department of Internal Medicine, Endocrinology-Diabetology Unit, University of Szeged, Budapest, Hungary. 6Medical Genetics Laboratory, Policlinico Tor Vergata, Rome, Italy. 7Division of Endocrinology and Diabetes Prevention and Care, Department of Medical and Surgical Sciences, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. 8Stiftung Ostschweizer Kinderspital, St. Gallen, St. Gallen, Switzerland. 9CNR Institute of Molecular Genetics “Luigi Luca Cavalli-Sforza”, Unit of Bologna, Bologna, Italy. 10Medical Department III – Endocrinology, Nephrology, Rheumatology, Lipodystrophy Center Leipzig, University of Leipzig, Leipzig, Germany. 11Department of Health Sciences, Unit of Endocrinology, Università del Piemonte Orientale, Novara, Italy. 1212. Obesity and Lipodystrophy Center, Endocrine Unit, University Hospital of Pisa, Pisa, Italy. 13Pediatric Gastroenterology Unit, Department of Pediatrics, Centro Materno Infantil do Norte (CMIN), Centro Hospitalar Universitário de Santo António, Porto; Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto; UCIBIO - Applied Molecular Bioscienses Unit, Faculty of Pharmacy, Universidade do Porto, Porto, Portugal. 14University of Cambridge Metabolic Research Laboratories, Cambridge, Cambridge, United Kingdom. 15Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, Vienna, Austria. 16Internal Medicine Unit and Obesity Center, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy. 17Endocrinology Research Centre, Moscow, Moscow, Russia. 18Clinical Research Facility, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, United Kingdom. 19Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre, Ljubljana, Slovenia. 20CHU Lille, Department of Endocrinology, Diabetology and Metabolism, Inserm, Translational Research for Diabetes, UMR-1190, University of Lille, European Genomic Institute for Diabetes, 59000, Lille, France. 21Sorbonne University, Inserm U938, AP-HP, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Departments of Endocrinology, Diabetology and Reproductive Endocrinology, and Molecular Biology and Genetics, Paris, France. 22Division of Endocrinology, Diabetology and Nutritional Medicine, Department of Medicine B of Gastroenterology and Hepatology, University Clinics of Münster, Münster, Germany. 23Thyroid and Metabolic Diseases Unit, Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS)-IDIS, School of Medicine, Universidade de Santiago de Compostela, Santiago de Compostella, Spain
Background: Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy sub-form, research in this area requires international co-operation. Therefore, in 2016, the European Consortium of Lipodystrophies (ECLip) decided to create a registry for patients affected by lipodystrophy.
Methods: The ECLip registry is a multicentre, international, longitudinal, observational study for all patients with lipodystrophy with the exception of HIV-associated lipodystrophy.
Findings: 19 centres from 13 countries reported n = 631 cases in the ECLip registry from December 16th 2017 to November 7th 2023. A prospective baseline episode visit was available for cross-sectional analysis in n = 467 patients. Lipoatrophy was the first symptom in most patients, however, in patients with familial partial lipodystrophy (FPLD)1, accumulation of fatty tissue was the most common first symptom (in 45.5% of them). Patients with generalized forms of lipodystrophy were diagnosed before patients with partial forms of lipodystrophy (14 years; IQR: 4-34, vs 40 years; IQR: 23-54). At baseline, 16% of all patients received metreleptin treatment. The most commonly used subgroup of drugs was non-insulin anti-diabetic drugs (50.0% of all patients). HbA1c ranged from 5.5. to 7.4%, with the highest HbA1c among patients with acquired generalized lipodystrophy (AGL) (7.4%; IQR: 5.5-8.4). Patients with FPLD neither type 1 or 2 had the highest triglyceride levels with 221.5 mg/dl (IQR: 175.0-319.0), followed by patients with FPLD2 (199.6 mg/dl; IQR: 138.5-309), congenital generalized lipodystrophy (CGL; 196.8 mg/dl; IQR: 121.0-448.0), and AGL (196.5 mg/dl; IQR: 76.5-83.5). Average ALT and AST levels were mostly within the normal range. Metabolic complications (especially dyslipidaemia and diabetes) were the most common reported co-morbidities (in 71.0% of all patients, and in 90.4% of patients with FPLD1), followed by abdominal problems (especially fatty liver disease, NASH, cirrhosis; in 59.2% of all patients). Pain, depression or fatigue was especially prevalent among patients with AGL (61.5%). 34 deaths were documented in the registry; the most prominent cause of death being thrombosis (7 of 34), followed by cancer (6 of 34). 8 of 34 deaths occurred before the age of 18 years (all in children with generalized lipodystrophy or progeroid syndrome).
Interpretation: This is the largest cohort of patients with lipodystrophy ever reported. The multi-centre setting across the whole of Europe provides a unique possibility to avoid centre or country-based bias.
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