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Lookup NU author(s): Dr Ekaterina Sorkina
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Published by Oxford University Press on behalf of the Endocrine Society 2025. CONTEXT: Lipodystrophy syndromes are rare disorders characterized by deficient adipose tissue, leading to insulin resistance, dyslipidemia, and organ system abnormalities. OBJECTIVE: Our goal was to develop a lipodystrophy severity score (LDS) to holistically capture the diverse manifestations of lipodystrophy into a numerical score to aid in prediction of clinical outcomes and/or treatment impact. DESIGN: An 8-domain LDS was developed by 8 disease experts in consultation with patient organizations. The LDS was rated for feasibility and content validity by 28 additional clinicians and 9 patient representatives. LDS was compared to the Clinical Global Impression (CGI) of severity for 20 putative patient profiles, each at 2 different time points, and by comparing change in LDS to global impression of change. For external validation, LDS was calculated in 2 cohorts of patients with lipodystrophy treated with metreleptin. RESULTS: LDS domains include Diabetes/Insulin Resistance, Microvascular Complications of Diabetes, Lipids, Cardiovascular, Liver, Kidney, Reproductive, and Other. Each domain is assessed by 1 or more questions assessing both lifetime and recent complications of lipodystrophy. The LDS had high content validity and feasibility and high reliability by intraclass correlation coefficients (>0.95). Global and domain-specific LDS were strongly correlated with CGI, as were changes in scores across visits (R = 0.79-0.99, P < .001 for all). In generalized lipodystrophy, metreleptin significantly reduced LDS (from 46 to 26 at 12 months, P < .001). The reductions were smaller in partial lipodystrophy (from 65 to 61 at 12 months, P = .04). CONCLUSION: The LDS can reflect the severity of diverse manifestations of lipodystrophy and monitor changes following interventions.
Author(s): Brown RJ, Akinci B, Yosef M, Phillips H, Khalatbari S, Sorkina E, Santini F, Vigouroux C, Brush M, Meral R, Ceccarini G, Zeybel M, Prodam F, von Schnurbein J, Sorice GP, Guler MC, Patni N, Tanrikulu S, Alyaarubi S, Ozgen BS, Foss-Freitas MC, Ozisik S, Segrestin B, Ozcan B, Adiyaman SC, Musolino G, Sekizkardes H, Musso C, Lebenthal Y, Ozen S, Simha V, Simsir IY, Stears A, Scherer T, Gambineri A, Lima JG, Semple R, Wabitsch M, Araujo-Vilar D, Hegele RA, Oral EA
Publication type: Article
Publication status: Published
Journal: Journal of Clinical Endocrinology and Metabolism
Year: 2025
Volume: 110
Issue: 11
Pages: 3243-3255
Print publication date: 01/11/2025
Online publication date: 19/02/2025
Acceptance date: 14/02/2025
ISSN (print): 0021-972X
ISSN (electronic): 1945-7197
Publisher: Oxford University Press
URL: https://doi.org/10.1210/clinem/dgaf103
DOI: 10.1210/clinem/dgaf103
PubMed id: 39970125
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