Impact of glycogen storage disease type I on adult daily life: a survey

Orphanet Journal of Rare Diseases

Viviane Ederer¹  Ute Spiekerkoetter¹  Sarah C. Grünert¹  Peter Burgard²  Sven F. Garbade²  Dorothea Haas²  Udo Wendel³ 

[1] Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany;Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany;Medical Faculty of the Heinrich-Heine University Düsseldorf, Düsseldorf, Germany;

关键词: Glycogen storage disease type I;    Glucose-6-phosphatase;    Glucose-6-phosphate transporter;    Coping;    Quality of life;    Disease burden;   

DOI  :  10.1186/s13023-021-02006-w

来源: Springer

【 摘 要 】

BackgroundGlycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprises a diet with defined carbohydrate intake and the use of complex carbohydrates, nocturnal tube feeding or night-time uncooked cornstarch intake, regular blood glucose monitoring and the handling of emergency situations. With improved treatment, most patients nowadays survive into adulthood. Little research has been performed on the impact of GSD I on daily life, especially in adult patients.ResultsIn this multi-centre study we assessed the impact of GSD I on adult daily life in 34 GSD I patients (27 GSD Ia, 7 GSD Ib) between 17 and 54 years (median 26 years) using a self-designed questionnaire that specifically focused on different aspects of daily life, such as job situation, social life, sports, travelling, composition of the household, night-time and day-time dietary management and disease monitoring as well as the patient’s attitude towards the disease. At the time of investigation, the majority of patients either attended school or university or were employed, while 3 patients (9%) were out of work. Most patients ranked GSD I as a disease with moderate severity and disease burden. Dietary treatment was considered challenging by many, but the vast majority of patients considered life with GSD I as well-manageable.ConclusionsAlthough the management of GSD I poses a significant burden on daily life, most patients live an independent adult life, have a positive attitude towards their disease and seem to cope well with their situation.

【 授权许可】

CC BY