MON-806 Assessment of Bone Density and Microarchitecture in Patients With Familial Partial Lipodystrophy

Abstract Disclosure: R.B. Muniz: None. C.M. Valerio: None. B.G. Smith: None. E.M. Gama: None. M.C. Franco: None. P. Macedo: None. M.R. Berriel: None. R.D. Moreira: None. A. Godoy-Matos: None. M. Madeira: None. Introduction: Familial partial lipodystrophy (FPL) is a rare condition with genetic diversity, characterized by the deficiency of adipose tissue in the lower limbs and gluteus, insulin resistance and metabolic alterations. Although the relationship between type 2 diabetes mellitus (DM) and fracture risk is well established, there is a scarcity of data on the association between fracture risk and FPL.Objective: To assess the risk of fractures in patients with FPL by bone mineral density and microarchitecture, as well as possible factors involved in this association. Methods: Cross-sectional study that selected patients from an outpatient clinic for FPL and controls from a database of healthy individuals. Clinical evaluation and examinations were made by dual energy X-ray absorptiometry (DEXA) and high-resolution quantitative peripheral computed tomography (HR-pQCT). Results: 24 patients were included in the FPL group, while 20 controls. FPL group with a mean age of 43.4 years (± 11.9) and median body mass index (BMI) of 25.3 (22.5 - 39.2) kg/m². In the control group, the mean age was 39.4 (± 6.4) and median BMI of 25.6 (22 - 37.6) kg/m². There was no significant difference between groups with respect to age (p 0.185) and BMI (p 0.506). In the FPL group, 15 participants had a diagnosis of DM, with a mean disease duration of 16.5 years (± 7.4). Molecular analysis in FPL group did not identify mutations in two patients, while 10 presented LMNA variant, 4 patients LPL (heterozygous), 3 with PPARG, 2 presented AKT in association with LMNA variant. Rare variants in one patient each as BSCL2 (heterozygous), MFN2 and SPINK1. Regarding DEXA, there was a statistical difference in the Z-score of the spine and femur, with higher values ​​in the FPL group. Evaluating HR-pQCT in the tibia and radius, there was no statistical difference in the comparison between the two groups. A comparison between the FPL subgroup with DM and the controls showed a statistical difference in the radius trabecular thickness parameter (Tb.Th), with greater Tb.Th in the FPL group with DM (median 0.078 mm versus 0.065 mm - p 0.048). This subgroup has a median of the highest triglyceride level of 1234 mg/dl, while the median of subgroup without DM is 371 mg/dl (p 0.028). Two patients presented femur fracture after falling from their own height during the study - after 20 years of diagnosis of DM and additional risk factors for frailty. Conclusion: Although the data does not indicate a higher risk of fractures in patients with FPL compared to controls and a greater Tb.Th was identified in the HR-pQCT evaluation in the subgroup of 15 patients with DM in relation to the control, two patients with DM presented osteoporotic fractures. The results suggest that hyperinsulinemia may have an anabolic effect on the bone, but with an evolution of greater bone fragility as the disease progresses to DM with complications and other associated risk factors for fracture. Presentation: Monday, July 14, 2025