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Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study

  • Annalisa Sechi
  • Laura Deroma
  • Sabrina Paci
  • Annunziata Lapolla
  • Francesca Carubbi
  • Alberto Burlina
  • Miriam Rigoldi
  • Maja Di Rocco
Research Report
Part of the JIMD Reports book series (JIMD, volume 14)

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.

Patients and 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.

Conclusion: 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.

Keywords

General Health Perception Glycogen Storage Disease Type Frequent Meal Healthy Peer Hepatic Adenoma 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgment

The authors would like to thank the patients who participated in the study and Mrs Alison Cousins for helping in the manuscript preparation.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Annalisa Sechi
    • 1
  • Laura Deroma
    • 1
  • Sabrina Paci
    • 2
  • Annunziata Lapolla
    • 3
  • Francesca Carubbi
    • 4
  • Alberto Burlina
    • 5
  • Miriam Rigoldi
    • 6
  • Maja Di Rocco
    • 7
  1. 1.Regional Coordinator Centre for Rare DiseasesUniversity Hospital Santa Maria della MisericordiaUdineItaly
  2. 2.Department of PaediatricsSan Paolo HospitalMilanItaly
  3. 3.Department of MedicineUniversity of PaduaPaduaItaly
  4. 4.Department of Biomedical, Metabolic and Neurological SciencesUniversity of Modena and Reggio EmiliaModenaItaly
  5. 5.Division of Inherited Metabolic Diseases, Department of PaediatricsUniversity HospitalPaduaItaly
  6. 6.Metabolic UnitSan Gerardo HospitalMonzaItaly
  7. 7.II Division of PaediatricsGiannina Gaslini Children’s HospitalGenoaItaly

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