6887 Unraveling the Natural History of Lipodystrophy Syndromes with LD LYNC: Time to Development of Important Comorbidities

Abstract Disclosure: M. Celik Guler: None. M.C. Foss de Freitas: Advisory Board Member; Self; PTC Therapeutics. Speaker; Self; Amryt. M. Yosef: None. S. Khalatbari: None. D. Kaba: None. M. Ashmus: None. D. Guler: None. D. Gilio: None. A. Dill Gomes: None. D.S. Rosenberg: None. T. Neal: None. B. Tuska: None. M. Brush: None. M. Hwang: None. B. Tracey: None. M. Okawa: None. B. Brite: None. C. Richison: None. I. Yildirim Simsir: None. B. Akinci: Advisory Board Member; Self; Amryt. Consulting Fee; Self; Regeneron Pharmaceuticals, Alnylam Pharmaceuticals, Amryt, AstraZeneca, Boehringer Ingelheim, Lilly, MSD, Novartis Pharmaceuticals, Novo Nordisk, Sanofi-Aventis, Servier, Third Rock Ventures. R.J. Brown: Grant Recipient; Self; Pfizer. Research Investigator; Self; Regeneron Pharmaceuticals, Amryt. E.A. Oral: Advisory Board Member; Self; Amryt, Regeneron Pharmaceuticals. Consulting Fee; Self; Regeneron Pharmaceuticals, Amryt, Third Rock Ventures. Grant Recipient; Self; Regeneron Pharmaceuticals, Amryt. Research Investigator; Self; Novo Nordisk, Ionis Pharmaceuticals Inc., Fractyl, GI Dynamics, Rhythm Pharmaceuticals. Other; Self; Amryt. Background: Lipodystrophy (LD) syndromes represent a group of rare diseases, genetic or acquired, characterized by deficiency or abnormal distribution of adipose tissue with comorbidities such as diabetes, hypertriglyceridemia, cardiovascular disorders, and liver diseases. Natural history data, including comparisons between disease subtypes, are limited to retrospective chart reviews. We are now conducting a prospective, international, comprehensive registry study to unravel the natural history of important comorbidities (LD Lync study; ClinicalTrials.gov # NCT03087253). Methods: This analysis reports on 267 patients with LD (M/F: 19/81%, age range: 6-75 years). All participants are followed up yearly. Clinical and demographic data are summarized by either median [IQR], or frequencies (%) for the overall and subgroups. For generalized lipodystrophy (GL) versus partial lipodystrophy (PL) comparisons, as well as for the most common genetic subgroups, the time to diagnosis of complications was analyzed using Kaplan-Meier curves and defined as the median age of occurrence (in years and interquartile range). Results: At baseline, hypertriglyceridemia was the most common comorbidity (76.6%), followed by diabetes (72.1%), fatty liver disease (69.1%), and hypertension (49.1%). Pancreatitis was identified in 22.1% of patients, and cirrhosis