20.500.12556/DiRROS-24689 Epidemiological and Clinical Data from the European lipodystrophy (ECLip) registry Objective: Lipodystrophy syndromes comprise a group of rare diseases characterized by loss of adipose tissue without nutritional or catabolic causes. As the rarity of these conditions necessitates collaboration, the European Consortium of Lipodystrophies (ECLip) established an international, longitudinal registry for patients with all forms of lipodystrophy (excluding HIV-associated cases). Methods: From December 2017 to November 2023, 19 centres from 13 countries recruited 631 patients into the ECLip registry. Cross-sectional data were analysed using descriptive statistics. Results: Prospective data was available for 467 patients (82.7%, female; 86.5% adults; median age 44.0 years). Familial partial lipodystrophy (FPLD) was the most common subtype (57.4%), especially FPLD2 (37.9%). However, in men congenital generalized lipodystrophy was nearly as common as FPLD (33.3% vs. 35.8%). Symptoms at onset varied by subtype, with loss of adipose tissue being the most frequent. More than 70% of the patients suffered from metabolic complications, particularly dyslipidaemia (59.0%) and diabetes (48.4%) but prevalence and severity varied between subtypes (prevalence of diabetes for example 76.9% in patients with acquired partial lipodystrophy vs 8.7% in acquired localized lipodystrophy). Metreleptin, the only disease-specific treatment, was used by 11.6% of all patients. 34 deaths were documented, primarily due to cardiovascular events and cancer. Patients with generalized forms of lipodystrophy died earlier compared to patients with partial forms (median age at death 27.0 vs. 72.0 years). Conclusion: This study describes the largest cohort of patients with lipodystrophy reported to date. The dataset offers a comprehensive view of the epidemiology, clinical presentation, and associated comorbidities of lipodystrophy. lipodystrophy registry metabolic diseases chronic complications adipose tissue leptin true false true Angleški jezik Ni določen Neznano 2025-12-12 13:02:26 2025-12-12 13:02:26 2025-12-13 03:51:08 0000-00-00 00:00:00 2025 0 0 Nasl. z nasl. zaslona; Opis vira z dne 6. 11. 2025; str. 585–603 issue 5 Vol. 193 2025 0000-00-00 Zaloznikova Objavljeno apc 0000-00-00 0000-00-00 0000-00-00 61 1479-683X 10.1093/ejendo/lvaf214 256060419 RAZ_Ceccarini_Giovanni_2025.pdf RAZ_Ceccarini_Giovanni_2025.pdf 1 F1C809316A117B91D7495A1E579039D2 6e00dae97f051555d58c0e949f8568597613d92a1b685d9a65fbe422979d1e27 94944e14-d752-11f0-94a7-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=36865 https://academic.oup.com/ejendo/article/193/5/585/8305425 0 b7b7e694-d752-11f0-94a7-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=36866 Univerzitetni klinični center Ljubljana 0 0 0