Akademik Veri Yönetim Sistemi
European Journal of Endocrinology, cilt.193, sa.5, ss.685-703, 2025 (SCI-Expanded, Scopus)
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 centers from 13 countries recruited 631 patients into the ECLip Registry. Cross-sectional data were analyzed using descriptive statistics. Results Prospective data were 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 dyslipidemia (59.0%) and diabetes (48.4%), but prevalence and severity varied between subtypes (prevalence of diabetes, eg, 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. Thirty-four 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.