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. 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.

Reappraisal of the Role of Portacaval Shunting in the Growth of Patients With Glycogen Storage Disease Type I in the Era of Liver Transplantation

“…Seventeen patients underwent PCS at a median age of 10 (range 4-12) years, and 13 patients underwent LT at a median age of 14.0 (range, [9][10][11][12][13][14][15][16][17][18][19][20][21][22] years. In the LT group, 6 patients with no previous PCS underwent LT at a median age of 13.0 (range, [9][10][11][12][13][14][15][16][17][18][19][20][21][22] years, and 7 underwent LT at a median age of 14.0 (range, 13-21) years with a median interval of 70 (range, 38-128) months after PCS. This group included 2 cases of deceased donor LT and 11 cases of living donor LT.…”

“…10 Advancements in nutritional management have helped improve short-and medium-term metabolic balance and growth in children with GSD type Ia. 7,11 Although, this study is a retrospective study with a small number of patients and the data were incomplete, analysis of the impact of surgical treatment modality on growth patterns in GSD type I will be important for future reference.…”

Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder

“…With increasing life expectancy of such patients [11], reaching adulthood and even bearing children [12], it is anticipated that such outstanding cases may become prevalent with the need of critical care settings. Our report further illustrates that such extremely severe lactic academia can be successfully managed without dialysis.…”

Mental Health and Quality of Life Perception of Surviving Cancer Patients: A Pilot Study

“…There is some evidence in the literature that exercise is actually the best medicine for reducing anxiety, decreasing the negative effects of depression and effectively helping to manage stress, especially in non communicable chronic diseases (NCCD) [14,16,17]. Particularly for surviving cancer patients' QoL perception, exercise is one of the most important aspects.…”