Lipodystrophy Severity Score to Assess Disease Burden in Lipodystrophy

Brown, Rebecca; AKINCI, BARIŞ; Yosef, Matheos; Phillips, Helen; Khalatbari, Shokoufeh; Sorkina, Ekaterina; Santini, Ferruccio; Vigouroux, Corinne; Brush, Maiah; Meral, Rasimcan; Ceccarini, Giovanni; Zeybel, Mujdat; Prodam, Flavia; Von Schnurbein, Julia; Sorice, Gian; Guler, Merve; Patni, Nivedita; Tanrikulu, Seher; Alyaarubi, Saif; Ozgen, Basak; Foss-Freitas, Maria; Ozisik, Secil; Segrestin, Benerice; Ozcan, Busra; Adiyaman, Suleyman; Musolino, Gianluca; Sekizkardes, Hilal; Musso, Carla; Lebenthal, Yael; Ozen, Samim; Simha, Vinaya; Simsir, Ilgin; Stears, Anna; Scherer, Thomas; Gambineri, Alessandra; Lima, Josivan; Semple, Robert; Wabitsch, Martin; Araujo-Vilar, David; Hegele, Robert; Oral, Elif

doi:10.1210/clinem/dgaf103

Lipodystrophy Severity Score to Assess Disease Burden in Lipodystrophy

Brown R. J., AKINCI B., Yosef M., Phillips H., Khalatbari S., Sorkina E., ...Daha Fazla

Journal of Clinical Endocrinology and Metabolism, cilt.110, sa.11, ss.3243-3255, 2025 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 110 Sayı: 11
Basım Tarihi: 2025
Doi Numarası: 10.1210/clinem/dgaf103
Dergi Adı: Journal of Clinical Endocrinology and Metabolism
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, BIOSIS, CAB Abstracts, Chemical Abstracts Core, CINAHL, Food Science & Technology Abstracts, Gender Studies Database, Veterinary Science Database, Nature Index
Sayfa Sayıları: ss.3243-3255
Anahtar Kelimeler: clinical events, comorbidities, complications, disease burden, metabolic disease, lipodystrophy
Dokuz Eylül Üniversitesi Adresli: Evet

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.