SAT-677 Masld Evaluation In Familial Partial Lipodystrophy: Should The Fib4 Index Be Used For Screening?

Abstract Disclosure: R.B. Muniz: None. L. Viola: None. M.C. Franco Farias: None. P.S. de Macedo: None. R.C. Junior: None. V.P. de Souza: None. J.R. Calmon: None. V.B. Pacheco: None. A. Godoy-Matos: None. J.D. Neto: None. R.D. Muniz: None. C.M. Valerio: None. Introduction: Familial partial lipodystrophy (FPL) is defined by deficiency of adipose tissue in the lower limbs and consequent ectopic fat deposition, that develops during childhood or puberty. Patients present multiple metabolic changes and high prevalence of liver steatosis with fibrosis. Although guidelines recommend elastography when the FIB-4 index is ≥ 1.3, there is a lack of studies evaluating the efficacy of FIB4 in FPL. Objective: To evaluate the performance of FIB4, compared with liver elastography, in patients with FPL. Methods: Cross-sectional study with patients from an outpatient clinic for FPL. Evaluations were made by laboratory assessment and liver stiffness measure (LSM) performed by shear wave or transient elastography. Results: 40 patients were included (20 as part of 8 families), 36 females and 4 males, with a mean age of 47.9 years (± 13.9). Molecular analysis did not identify any mutations in 8 patients, but identified LMNA variants in 17 patients, PPARG in 7, heterozygous LPL in 4, one patient with association of LMNA and LPL and rare variants were in 3 patients: one with heterozygous BSCL2, another with MFN2 and the last one with SPINK1. Hypertension was diagnosed in 30 patients, while diabetes mellitus (DM) in 33, with a mean disease duration of 16,1 years (± 8.9) and median of A1c was 8% (5.9 - 13.5). Hypertriglyceridemia was identified in 90% of patients, with a median of the highest triglyceride level of 532 mg/dl (119 - 1,795). LSM showed fibrosis in 17 patients (42.5%), with METAVIR of F2 in 11 patients, F3 in one and F4 in 5. The analysis of FIB4 and LSM in Kpa, showed a positive correlation between these values (p = 0,004; R Spearman 0,451), but the patient with F3 presented FIB4 < 1,3, as 6 patients with F2. In patients with F4, all FIB4 values were >1.3, but only one was >2.67. Using elastography as a standard for detecting fibrosis, FIB4 showed sensitivity of 58,5% in our sample. Conclusion: Despite the correlation between FIB4 and LSM, 58,3% of the 12 patients with F2 or F3 had FIB4 < 1,3. Also, most patients with F4 presents FIB4 < 2,67, value indicated as high risk for advanced fibrosis. FIB4 appears to underestimate the risk of fibrosis in FPL. Given the high risk of development and progression of fibrosis in FPL, elastography seems to be superior for diagnosis and follow-up. Maybe a lower cutoff of FIB4 could be useful for screening in the future, in combination with other criteria to define the risk of fibrosis. Presentation: Saturday, July 12, 2025