Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China

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.

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.

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.

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.