MON-101 The LD Lync Study: Natural History Study of Lipodystrophy Syndromes: Early Lessons from the Pilot Data

Lipodystrophy syndromes are a heterogeneous cluster of rare diseases characterized by a paucity or abnormal distribution of fat which are also associated with insulin resistance and ectopic lipid deposition. Owing to the rarity of the syndromes, the natural history and exact evolution of clinical, and psychosocial aspects are largely unknown. In March, 2018 we launched a prospective data registry- the LD Lync. The registry will be expanded to multiple centers across the US to ensure maximum number of participants. Anticipated sample size is 500. The goal is to collect data on various aspects of lipodystrophy syndromes (LD) including demographic, morphometric, clinical, genetic, socioeconomic characteristics and novel patient related end points such as quality of life, hunger and pain scales, mood and anxiety, and eating habits. During the past 8 months, we initiated the pilot data collection at our center. As of this month, we collected data on 61 affected individuals (49F/12 M, mean±SD Age: 44±15, with 4 acquired generalized LD (AGL), 3 acquired partial LD (APL), 48 familial partial LD (FPLD), 1 congenital generalized LD (CGL), 5 atypical LD). The median (IQR) difference between symptoms onset and time of diagnosis was 14y (24). The prevalence (95%CI) of diabetes, hypertriglyceridemia, nonalcoholic fatty liver disease were 83% (71-92), 81% (69-90), and 78% (67-89) respectively. In terms of significant organ manifestations, 10% (95%CI:2-18) had myocardial infarction, 3% (0-8) had heart failure, 23% (14-35) had pancreatitis, and 8% (1-16) had malignancy. The (Median: IQR) age of diagnosis of these diseases was heterogeneous: diabetes 31y (26), hypercholesterolemia 27y (20), hypertriglyceridemia 25y (17), fatty liver disease 33y (31), and myocardial infarction 50y (16) . Out of 60 patients, 70% (58-82) are on lipid lowering drugs, 77% (66-87) on glucose lowering drugs, 37% (24-49) on hormones, and 68% (57-80) on anti-hypertensives. Out of the 61 who completed the GAD-7, IPAQ-2002, Modified 13 item binge eating scale, SF-36 scale, PHQ-9, and the perceived financial burden scale, 33% (95% CI, 21-45) had minimal anxiety, 28.3% (17-40) had mild anxiety, 20% (10-30) had moderate anxiety, and 18% (8-28) had severe anxiety. On quality of life, with 100% being the perfect score, our patients had low scores mean(95%CI): 37%(34-40) on emotional wellbeing, 49% (43-55) on social functioning, 55% (48-62) on pain level, and 32% (27-37) on general health. On the financial impact of lipodystrophy: 46% (33-58) reported moderate or higher levels of burden. We conclude that the lipodystrophy syndromes present with a large burden not only in terms of known medical complications but also in socioeconomic and psychosocial aspects of life. Expansion of this registry to include multiple sites in the US and across the globe will improve our understanding of all aspects of these diseases.