title: Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian study.
abstract: BACKGROUND
  Glycogen storage disease type I (GSD I) is a chronic metabolic disease that requires a lifelong strict dietetic treatment to avoid hypoglycemia and can lead to severe complications during adult age. Impaired quality of life (QoL) has been reported in affected children, but this aspect has not been previously investigated in adults.
  
  
  OBJECTIVE
  To assess QoL in adult patients with GSD I.
  
  
  METHODS
  Italian patients with GSD type Ia and Ib, who were 16 years or older, were asked to complete the SF-36 questionnaire, assessing their QoL. Data on demographic characteristics and clinical history were collected from clinical records and interviews.
  
  
  RESULTS
  Thirty-eight patients (22 females, 16 males; 27 with GSD Ia, 11 with GSD Ib, median age 26.5 years) completed the SF-36 questionnaire. Overall, when compared to normal values, patients with GSD I had lower median scores in general health perception and social functioning, but better median scores for bodily pain and mental health. Patients with GSD Ib had a lower Z-score than GSD Ia patients for emotional health problems. Male patients showed better Z-scores in physical functioning, general health perception, and social functioning when compared to females. Emotional health problems Z-score was lower in nephropathic patients.
  
  
  CONCLUSIONS
  QoL can be impaired in adult patients with GSD I. The results of this study show that patients with GSD type Ib, women, and those with renal complications are more likely to experience a poorer QoL.
authors.affiliation: Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy, sechi.annalisa@aoud.sanita.fvg.it.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Sechi
authors.forename: Laura
authors.initials: L
authors.lastname: Deroma
authors.forename: Sabrina
authors.initials: S
authors.lastname: Paci
authors.forename: Annunziata
authors.initials: A
authors.lastname: Lapolla
authors.forename: Francesca
authors.initials: F
authors.lastname: Carubbi
authors.forename: Alberto
authors.initials: A
authors.lastname: Burlina
authors.forename: Miriam
authors.initials: M
authors.lastname: Rigoldi
authors.forename: Maja
authors.initials: M
authors.lastname: Di Rocco