Unraveling the natural history of lipodystrophy syndromes: insights from the prospective LD-Lync study

Celik Guler, MERVE; Foss-Freitas, Maria; Simsir, Ilgin; Yosef, Matheos; Ashmus, Michelle; Khalatbari, Shokoufeh; Gilio, Donatella; Guler, Demircan; Kaba, Diarratou; Gomes, Anabela; Neal, Trinity; Tuska, Becca; Brush, Maiah; Stratton, Andra; Meral, Rasimcan; Besci, ÖZGE; Hwang, Michael; Tracey, Britney; Rosenberg, Drake; Uwandu, Chika; Okawa, Marinna; Brite, Brianna; Lightbourne, Marissa; Luo, Yingying; Jones, Deanna; Wallace, Kaneesha; Spino, Cathie; Boris, Natalia; Eldin, Abdelwahab; Valerio, Cynthia; Fernandes, Virginia; Montenegro Junior, Renan; Akinci, BARIŞ; Brown, Rebecca; Oral, Elif

doi:10.1210/jendso/bvag155

Unraveling the natural history of lipodystrophy syndromes: insights from the prospective LD-Lync study

Celik Guler M., Foss-Freitas M. C., Simsir I. Y., Yosef M., Ashmus M., Khalatbari S., ...Daha Fazla

Journal of the Endocrine Society, cilt.10, sa.8, 2026 (ESCI, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 10 Sayı: 8
Basım Tarihi: 2026
Doi Numarası: 10.1210/jendso/bvag155
Dergi Adı: Journal of the Endocrine Society
Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, CINAHL, EMBASE, Directory of Open Access Journals, Health Research Premium Collection (ProQuest)
Anahtar Kelimeler: diabetes, hypertriglyceridemia, insulin resistance, leptin, lipodystrophy, pancreatitis
Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Context: Lipodystrophy syndromes represent a diverse group of rare disorders characterized by deficiency and abnormal distribution of adipose tissue that may be generalized (GL) or partial (PL), leading to significant metabolic abnormalities. Objective: To elucidate the natural history of critical comorbidities of lipodystrophy. Methods: Ongoing, prospective, multicenter, registry study (LD Lync; NCT03087253). This analysis reports 266 patients with lipodystrophy enrolled until October 11, 2023. Results: The median age was 39 years ([28-54], range: 6-76 years; male/female: 50/216). Hypertriglyceridemia (n = 202, 75.9%) was the most common comorbidity, followed by diabetes (n = 190, 72.0%), hepatic steatosis (n = 182, 68.4%), and hypertension (n = 130, 48.8%). Pancreatitis was detected in 21.8% of patients (n = 58), and cirrhosis in 7.1% of patients (n = 19). The median age at diagnosis was significantly earlier in patients with GL compared to those with PL for both diabetes (16 [14-32] years in GL vs 35 [25-50] years in PL) and hypertriglyceridemia (20 [15-26] years in GL vs 30 [22-49] years in PL) (P <.0001). Seven (2.6%) patients died during follow-up. Multiple medications were used to treat metabolic disease. Eighty-one (30.4%) patients received at least one dose of metreleptin during clinical studies or commercially during follow-up. Conclusion: Our findings confirm that patients with lipodystrophy face a significant risk of comorbidities, with an earlier onset of diabetes, hypertriglyceridemia, and hepatic steatosis in those with GL compared to PL. This registry will serve as a crucial resource for gaining insights into the burden of disease in lipodystrophy.