First cross sectional analysis of the eclip registry

Schnurbein Julia von; Gabriele Nagel; Baris Akinci; Marjoleine Broekma; Eva Csajbok; D'Apice Maria Rosaria; Alessandra Gambineri; Kathrin Heldt; Lotte Kleinendorst; Giovanna Lattanzi; Konstanze Miehle; Flavia Prodami; Ferruccio Santini; Silva Ermelinda Santos; Savage David B; Thomas Scherer; Paolo Sbraccia; Ekaterina Sorkina; Iztok Štotl; Marie-Christine Vantyghem; Corinne Vigouroux; Elena Vorona; David Araújo-Vilar; Martin Wabitsch; Camille Vatier; Giovanni Ceccarini

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ESPE Abstracts (2024) 98 FC6.5

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

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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.