Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China
Abstract Background Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifestations. This study aimed to describe the gastrointestinal symptoms and e...
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2025-01-01
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| author | Xiaoyan Zhang Zexiong Su Jiaxing Wu Hanshi Zeng Xun Jiang Ying Wang Huiqing Shen Xiaoli Xie Yuan Xiao Qing Tang Xiaoping Luo Xuemei Zhong Huan Chen Jiaoli Lan Yongxin Chen Xiaolu Zeng Huiqiong Zhang Zhiling Li Yuxin Zhang Min Yang |
| author_facet | Xiaoyan Zhang Zexiong Su Jiaxing Wu Hanshi Zeng Xun Jiang Ying Wang Huiqing Shen Xiaoli Xie Yuan Xiao Qing Tang Xiaoping Luo Xuemei Zhong Huan Chen Jiaoli Lan Yongxin Chen Xiaolu Zeng Huiqiong Zhang Zhiling Li Yuxin Zhang Min Yang |
| author_sort | Xiaoyan Zhang |
| collection | DOAJ |
| description | Abstract Background Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifestations. This study aimed to describe the gastrointestinal symptoms and endoscopic features of hepatic GSD, including types Ia, Ib, III, VI, and IX, to provide evidence for etiology and treatment. Methods A national cohort survey questionnaire was distributed to patients diagnosed with GSD type Ia, Ib, III, VI, and IX through genetic testing or their parents in mainland China in May 2022. Expert gastroendoscopists performed endoscopic examinations and evaluations in 10 hospitals. Descriptive statistics were used for analysis. Results A total of 315 patients with hepatic GSD were included in the study, including 191 males and 124 females, the median age at diagnosis was 1.42 years (range = 0.08–36.08 years), with a median age of 5.42 years at the time of investigation (range = 0.58–38.08 years). 95% of patients relied on uncooked corn starch (UCCS) for blood glucose maintenance, and the median age of initiation was 18.5 months (range = 4-360 months). The common characteristics of these GSDs were hypoglycemia, lactic acidosis, anemia, liver enlargement, hyperlipidemia, hyperuricemia, and weakness. More than 60% of patients reported gastrointestinal symptom including anorexia, nausea/vomiting, abdominal pain, abdominal bloating, diarrhea, and mucus or bloody stool. The incidence of gastrointestinal symptoms in patients with GSD type Ia, Ib, III, VI and IX were 68%, 68%, 48%, 59% and 48%, respectively. A total of 48 GSD patients underwent gastroenteroscopy, 54% (26/48, 24 patients with type Ib, 1 patient with type Ia and 1 with III) were diagnosed with GSD-associated inflammatory bowel disease (IBD), the endoscopic images showed mucosal edema, erythema, erosions, single or scattered multiple large, deep, round ulcers and strictures, without linear ulcers and cobblestone mucosal lesions. Conclusion Patients with GSD type Ia, Ib, III, VI and IX had different degrees of gastrointestinal complications, among which patients with type Ia, Ib and III were the most prominent, and the proportion of GSD-Ib patients had a higher proportion of GSD-associated IBD. |
| format | Article |
| id | doaj-art-b5af6cba1a624c0dbcde5b5697d2024f |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
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| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-b5af6cba1a624c0dbcde5b5697d2024f2025-02-02T12:42:20ZengBMCOrphanet Journal of Rare Diseases1750-11722025-01-0120111110.1186/s13023-025-03570-1Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in ChinaXiaoyan Zhang0Zexiong Su1Jiaxing Wu2Hanshi Zeng3Xun Jiang4Ying Wang5Huiqing Shen6Xiaoli Xie7Yuan Xiao8Qing Tang9Xiaoping Luo10Xuemei Zhong11Huan Chen12Jiaoli Lan13Yongxin Chen14Xiaolu Zeng15Huiqiong Zhang16Zhiling Li17Yuxin Zhang18Min Yang19Department of Pediatrics, Guangdong Provincial People’s Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical UniversityDepartment of Pediatrics, Guangdong Provincial People’s Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical UniversityDepartment of Pediatrics, Guangdong Provincial People’s Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical UniversityDepartment of Pediatrics, Guangdong Provincial People’s Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical UniversityDepartment of Pediatrics, The Second Affiliated Hospital, Air Force Military Medical UniversityDivision of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineDepartment of gastroenterology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthChengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of ChinaDepartment of Pediatrics, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong UniversityDepartment of Pediatrics, The First Affiliated hospital of Guangxi Medical UniversityDepartment of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of gastroenterology, Capital Institute of PediatricsDepartment of gastroenterology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Pediatrics, Guangdong Provincial People’s Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical UniversityDepartment of Pediatrics, Guangdong Provincial People’s Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical UniversityDepartment of Pediatrics, Guangdong Provincial People’s Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical UniversityDepartment of Pediatrics, Guangdong Provincial People’s Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical UniversityDepartment of Pediatrics, Guangdong Provincial People’s Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical UniversityDepartment of Pediatrics, Guangdong Provincial People’s Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical UniversityDepartment of Pediatrics, Guangdong Provincial People’s Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical UniversityAbstract Background Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifestations. This study aimed to describe the gastrointestinal symptoms and endoscopic features of hepatic GSD, including types Ia, Ib, III, VI, and IX, to provide evidence for etiology and treatment. Methods A national cohort survey questionnaire was distributed to patients diagnosed with GSD type Ia, Ib, III, VI, and IX through genetic testing or their parents in mainland China in May 2022. Expert gastroendoscopists performed endoscopic examinations and evaluations in 10 hospitals. Descriptive statistics were used for analysis. Results A total of 315 patients with hepatic GSD were included in the study, including 191 males and 124 females, the median age at diagnosis was 1.42 years (range = 0.08–36.08 years), with a median age of 5.42 years at the time of investigation (range = 0.58–38.08 years). 95% of patients relied on uncooked corn starch (UCCS) for blood glucose maintenance, and the median age of initiation was 18.5 months (range = 4-360 months). The common characteristics of these GSDs were hypoglycemia, lactic acidosis, anemia, liver enlargement, hyperlipidemia, hyperuricemia, and weakness. More than 60% of patients reported gastrointestinal symptom including anorexia, nausea/vomiting, abdominal pain, abdominal bloating, diarrhea, and mucus or bloody stool. The incidence of gastrointestinal symptoms in patients with GSD type Ia, Ib, III, VI and IX were 68%, 68%, 48%, 59% and 48%, respectively. A total of 48 GSD patients underwent gastroenteroscopy, 54% (26/48, 24 patients with type Ib, 1 patient with type Ia and 1 with III) were diagnosed with GSD-associated inflammatory bowel disease (IBD), the endoscopic images showed mucosal edema, erythema, erosions, single or scattered multiple large, deep, round ulcers and strictures, without linear ulcers and cobblestone mucosal lesions. Conclusion Patients with GSD type Ia, Ib, III, VI and IX had different degrees of gastrointestinal complications, among which patients with type Ia, Ib and III were the most prominent, and the proportion of GSD-Ib patients had a higher proportion of GSD-associated IBD.https://doi.org/10.1186/s13023-025-03570-1Hepatic glycogen storage diseaseUncooked corn starchGastrointestinal complicationsEndoscopyInflammatory bowel disease |
| spellingShingle | Xiaoyan Zhang Zexiong Su Jiaxing Wu Hanshi Zeng Xun Jiang Ying Wang Huiqing Shen Xiaoli Xie Yuan Xiao Qing Tang Xiaoping Luo Xuemei Zhong Huan Chen Jiaoli Lan Yongxin Chen Xiaolu Zeng Huiqiong Zhang Zhiling Li Yuxin Zhang Min Yang Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China Orphanet Journal of Rare Diseases Hepatic glycogen storage disease Uncooked corn starch Gastrointestinal complications Endoscopy Inflammatory bowel disease |
| title | Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China |
| title_full | Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China |
| title_fullStr | Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China |
| title_full_unstemmed | Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China |
| title_short | Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China |
| title_sort | gastrointestinal complications of hepatic glycogen storage disease a national survey questionnaire study in china |
| topic | Hepatic glycogen storage disease Uncooked corn starch Gastrointestinal complications Endoscopy Inflammatory bowel disease |
| url | https://doi.org/10.1186/s13023-025-03570-1 |
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