Lipodystrophy Severity Score to Assess Disease Burden in Lipodystrophy
Makaleler > Tam Makale · 2025
Yazarlar: REBECA BROWN, BARIŞ AKINCI, Matheos Yosef, Helen Phillips, Shokoufeh Khalatbari, Ekaterina Sorkina, Ferruccio Santini, Corinne Vigouroux, Maiah Brush, RASİMCAN MERAL, Giovanni Ceccarini, Mujdat Zeybel, Flavia Prodam, Julia von Schnurbein von Schnurbein, Gian P Sorice, Merve Guler, Nivedita Patni, SEHER TANRIKULU, Saif Alyaarubi, BAŞAK ÖZGEN SAYDAM, Maria C Foss-Freitas, SEÇİL ÖZIŞIK, Benerice Segrestin, Busra Ozcan, SÜLEYMAN ADIYAMAN, Gianluca Musolino, HİLAL SEKİZKARDEŞ, CARLA MUSSO, Yael Lebenthal, Samim ÖZEN, VİNAYA SİMHA, Ilgın YILDIRIM ŞİMŞİR, ANNA STEARS, THOMAS SHERER, Alessandra Gambineri, JOSİVAN LİMA, ROBERT SEMPLE, MARTİN WABİTSCH, David Araujo-Vilar, ROBERT HEGELE, ELİF ORAL
The Journal of Clinical Endocrinology & Metabolism, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2025, cilt 110, ss 3243-3255
Özet
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.