title: Quality of life of brazilian patients with Gaucher disease and fabry disease.
abstract: OBJECTIVE
  To evaluate QoL in a sample of Brazilian patients with Gaucher (GD) and Fabry (FD) disease using the SF-36 survey.
  
  
  METHODS
  Observational cross-sectional study. The SF-36 survey was administered to cognitively able patients 12 years or older, who were seen in the Medical Genetics Service of Hospital de Clínicas de Porto Alegre, Brazil.
  
  
  RESULTS
  Thirty-five patients were included in the study (GD = 21, FD = 14), mean age was 29.8 ± 14.2 years and 29 (82.9%) were receiving ERT. Patients with GD receiving ERT had better scores in the general health (p = 0.046) domain of the SF-36 than patients with FD receiving ERT. Comparison of patients with GD naive to ERT and those receiving ERT revealed differences only in the bodily pain domain (p = 0.036). The Zimran score showed a moderate negative correlation with the following domains of the SF-36: physical functioning (p = 0.035), role-physical (p = 0.036), general health (p = 0.023) and role emotional (p = 0.021).
  
  
  CONCLUSIONS
  Although limited because of the small number of patients included, findings suggest that patients with GD receiving ERT have a better QoL than patients with FD or with GD not receiving ERT. Imiglucerase has a beneficial effect against pain for patients with GD. Further studies should be conducted to confirm our findings.
authors: Post-Graduate Program in Medical Sciences, School of Medicine, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
authors: Fabiane Lopes
authors: FL
authors: Oliveira
authors: Taciane
authors: T
authors: Alegra
authors: Alicia
authors: A
authors: Dornelles
authors: Bárbara Corrêa
authors: BC
authors: Krug
authors: Cristina B O
authors: CB
authors: Netto
authors: Neusa Sica
authors: NS
authors: da Rocha
authors: Paulo D
authors: PD
authors: Picon
authors: Ida Vanessa D
authors: IV
authors: Schwartz