Unraveling the natural history of lipodystrophy syndromes: insights from the prospective LD-Lync study
Makaleler > Tam Makale · 2026
Yazarlar: Merve Celik Guler, Maria Cristina Foss-Freitas, Ilgın YILDIRIM ŞİMŞİR, Matheos Yosef, Michelle Ashmus, Shokoufeh Khalatbari, Donatella Gilio, Demircan Guler, Diarratou Kaba, Anabela Dill Gomes, Trinity Neal, Becca Tuska, Maiah Brush, Andra Stratton, Rasimcan Meral, Ozge Besci, Michael Hwang, Britney Tracey, Drake Stanton Rosenberg, Chika Divine Uwandu, Marinna Okawa, Brianna Brite, Marissa Lightbourne, Yingying Luo, Deanna Jones, Kaneesha Wallace, Cathie Spino, Natalia Prado Boris, Abdelwahab Jalal Eldin, Cynthia M Valerio, Virginia Oliveira Fernandes, Renan Magalhães Montenegro Junior, Baris Akinci, Rebecca J Brown, Elif A Oral
Journal of the Endocrine Society, Uluslararası, Scopus, 2026, cilt 10, ss bvag155-bvag155
Özet
Abstract 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.