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

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JIMD Reports, Volume 14

Part of the book series: JIMD Reports ((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.

Competing interests: None declared

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References

  • Apolone G, Mosconi P, Ware JE Jr (1997) Questionario sullo stato di salute SF-36. Manuale d’uso e guida all’interpretazione dei risultati. Guerini e associati, Milano

    Google Scholar 

  • Bhattacharya K (2011) Dietary dilemmas in the management of glycogen storage disease type I. J Inherit Metab Dis 34(3):621–629

    Article  PubMed  CAS  Google Scholar 

  • Carver CS, Connor-Smith J (2010) Personality and coping. Annu Rev Psychol 61:679–704

    Article  PubMed  Google Scholar 

  • Chen YT (2001) Type I glycogen storage diseases. In: Scriver CR, Beaudet A, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw Hill, New York, pp 1521–1551

    Google Scholar 

  • Froissart R, Piraud M, Boudjemline AM et al (2011) Glucose-6-phosphatase deficiency. Orphanet J Rare Dis 20:6–27

    Google Scholar 

  • Kido J, Nakamura K, Matsumoto S, Mitsubuchi H, Ohura T, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F (2013) Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes. J Hum Genet 58(5):285–292

    Article  PubMed  CAS  Google Scholar 

  • Lee PJ (2002) Growing older: the adult metabolic clinic. J Inherit Metab Dis 25(3):252–260

    Article  PubMed  CAS  Google Scholar 

  • Lloyd CE, Orchard TJ (1999) Physical and psychological well-being in adults with Type 1 diabetes. Diabetes Res Clin Pract 44(1):9–19

    Article  PubMed  CAS  Google Scholar 

  • Martens DH, Rake JP, Schwarz M et al (2008) Pregnancies in glycogen storage disease type Ia. Am J Obstet Gynecol 198(6):646.e1–e.7

    Google Scholar 

  • Moses SW (2002) Historical highlights and unsolved problems in glycogen storage disease type 1. Eur J Pediatr 161(Suppl 1):S2–S9

    Article  PubMed  CAS  Google Scholar 

  • Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP (2002a) Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on glycogen storage disease type I. Eur J Pediatr 161:20–34

    Article  Google Scholar 

  • Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP (2002b) Guidelines for management of glycogen storage disease type I – European study on glycogen storage disease type I. Eur J Pediatr 161:112–119

    Article  Google Scholar 

  • Simon E, Schwarz M, Roos J et al (2008) Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcomes 26:6–25

    Google Scholar 

  • Storch E, Keeley M, Merlo L, Jacob M, Correia C, Weinstein D (2008) Psychosocial functioning in youth with glycogen storage disease type I. J Pediatr Psychol 33(7):728–738

    Article  PubMed  Google Scholar 

  • Talente GM, Coleman RA, Alter C et al (1994) Glycogen storage disease in adults. Ann Intern Med 120:218–226

    Article  PubMed  CAS  Google Scholar 

  • Visser G, Rake JP, Fernandes J et al (2000) Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European study on glycogen storage disease type I. J Pediatr 137:187–191

    Article  PubMed  CAS  Google Scholar 

  • Visser G, Rake JP, Labruen P et al (2002) Consensus guidelines for management of glycogen storage disease type Ib – European study on glycogen storage disease type I. Eur J Pediatr 161:120–123

    Article  Google Scholar 

  • Ware JE Jr, Sherbourne CD (1992) The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care 30:473–483

    Article  PubMed  Google Scholar 

  • Wolfsdorf JI, Crigler JF Jr (1999) Effect of continuous glucose therapy begun in infancy on the long-term clinical course of patients with type I glycogen storage disease. J Pediatr Gastroenterol Nutr 29(2):136–143

    Article  PubMed  CAS  Google Scholar 

  • Wolfsdorf JI, Weinstein DA (2003) Glycogen storage diseases. Rev Endocr Metab Disord 4(1):95–102

    Article  PubMed  CAS  Google Scholar 

Download references

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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Authors and Affiliations

  1. Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy

    Annalisa Sechi & Laura Deroma

  2. Department of Paediatrics, San Paolo Hospital, Milan, Italy

    Sabrina Paci

  3. Department of Medicine, University of Padua, Padua, Italy

    Annunziata Lapolla

  4. Department of Biomedical, Metabolic and Neurological Sciences, University of Modena and Reggio Emilia, Modena, Italy

    Francesca Carubbi

  5. Division of Inherited Metabolic Diseases, Department of Paediatrics, University Hospital, Padua, Italy

    Alberto Burlina

  6. Metabolic Unit, San Gerardo Hospital, Monza, Italy

    Miriam Rigoldi

  7. II Division of Paediatrics, Giannina Gaslini Children’s Hospital, Genoa, Italy

    Maja Di Rocco

Authors
  1. Annalisa Sechi
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  2. Laura Deroma
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  3. Sabrina Paci
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  4. Annunziata Lapolla
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  5. Francesca Carubbi
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  6. Alberto Burlina
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  7. Miriam Rigoldi
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  8. Maja Di Rocco
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Corresponding author

Correspondence to Annalisa Sechi .

Editor information

Editors and Affiliations

  1. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  2. WSU Division of Health Sciences, Spokane, Washington, USA

    K. Michael Gibson

  3. Department of Biochemistry Genetics Unit, University of Oxford, Oxford, United Kingdom

    Garry Brown

  4. Tulane University Medical School, New Orleans, Louisiana, USA

    Eva Morava

  5. Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: John H Walter, MD FRCPCH

Compliance with Ethics Guidelines

Compliance with Ethics Guidelines

All authors declare that they have no conflict of interest.

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

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© 2013 SSIEM and Springer-Verlag Berlin Heidelberg

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Sechi, A. et al. (2013). Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports, Volume 14. JIMD Reports, vol 14. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2013_283

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  • DOI: https://doi.org/10.1007/8904_2013_283

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-43747-6

  • Online ISBN: 978-3-662-43748-3

  • eBook Packages: MedicineMedicine (R0)

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