P943 - RESTING ENERGY EXPENDITURE AND BODY COMPOSITION IN ADULT PATIENTS WITH FABRY DISEASE: A CROSS-SECTIONAL STUDY

P943

RESTING ENERGY EXPENDITURE AND BODY COMPOSITION IN ADULT PATIENTS WITH FABRY DISEASE: A CROSS-SECTIONAL STUDY

G. Gugelmo^1,*, F. Tosetto², M. D'Angelo³, L. Lenzini⁴, G. Carraro⁵, L. Busetto³, N. Vitturi¹, F. Francini Pesenti³

¹Department of Medicine, Division of Metabolic Diseases, University Hospital of Padova, ²University of Padova, ³Department of Medicine, Division of Clinical Nutrition, University Hospital of Padova, ⁴Department of Medicine, University Hospital of Padova, ⁵Department of Medicine, Nephrology, Dialysis and Transplantation Unit, University Hospital of Padova, Padova, Italy

Rationale: Fabry Disease (FD) is a rare X-linked lysosomal storage disorder with multi-organ involvement. Body composition, metabolic and muscolar alterations in FD remain poorly characterized. Therefore, this cross-sectional study aimed to assess resting energy expenditure (REE) and body composition in FD adults and explore associations with gender, phenotype, and treatment.

Methods: FD patients followed at the Adult Metabolic Rare Diseases Service of the University Hospital of Padua were assessed for body composition (by bioelectrical impedance (BIA)) and REE via indirect calorimetry (IC): REE was compared to predicted values (pREE) (Harris-Benedict), normalized for body weight (REE/kg) and fat-free mass (REE/FFM).

Results: 20 FD adults (mean age 48.5±15.3 ys; 6 M, 14 F) presented mean BMI of 24.8±5.1 kg/m². In males, FFMI (20.2±2.6 kg/m²) and FMI (6.9±4.1 kg/m²) were in reference range, PA (5.3±1.0°) below reference values. Females showed normal values for FMI (6.5±3.6 kg/m²), FFMI (17.1±1.4 kg/m²), and PA (5.7±0.7°). REE was on average 11% higher than pREE: REE/kg (23.5±3.1) vs. pREE/kg (21.1±2.1) (p<0.01); REE/FFM (31.4±2.3) vs. pREE/FFM (28.8±2.3) (p<0.01). Females had significantly higher REE/FFM than males (32.1±2.3 vs. 29.9±1.4; p=0.01), despite similar BMI. Treated patients (n=13) showed significantly lower PA and REE/pREE (p=0.03) than untreated ones. Classic phenotypes (n=3) had significantly lower BMI (p=0.04) and REE/kg (p=0.04) than late-onset ones.

Conclusion: Higher REE/FFM in females suggests sex-specific metabolic adaptations. Lower PA and higher REE/pREE in treated patients, along with lower BMI and REE/kg in classic patients, may reflect disease-specific burden and warrant further investigation into their relationship with reduced physical function and fitness. The use of BIA and IC may support individualized nutritional assessment within a multidisciplinary approach to FD care.

Disclosure of Interest: None declared