Effect of VSL#3 Probiotic in a Patient with Glycogen Storage Disease Type Ia and Irritable Bowel Disease-like Disease

Abstract

Gut Inflammatory bowel disease (IBD) is a group of chronic gastrointestinal disorders characterised by relapsing and remitting inflammation of the gastrointestinal tract. The two most common types of IBDs are ulcerative colitis and Crohn's disease. Patients with glycogen storage disease (GSD) type Ia present with gastrointestinal symptoms such as recurrent abdominal pain, bloating and changes in stool form or frequency, which is clinically difficult to distinguish from IBD. We report the case of a 36-year-old man with GSD type Ia and IBD-like disease. A commercial probiotic (VSL#3®) was chosen as a nutritional supplement treatment because of its high content of microbial species and strains. Three different tests were performed: normal-dose, no-dose and half-dose tests. The study periods for the normal-dose, no-dose and half-dose tests were 4 weeks from the treatment initiation, 72 h from the end of the previous period and 4 weeks to 6 months after the end of the 72-h period, respectively. When the probiotic treatment was stopped, he experienced several symptoms similar to those before the start of the treatment. The intestinal symptoms were less severe with the half-dose nutritional supplement treatment than with no treatment. Probiotics may reduce the number of irritable gut episodes and improve the patient's well-being and overall quality of life. More studies are needed to determine whether the improvement in more severe cases of GSD is due mainly to changes in the composition of the gut microbiota, as in this patient.

Hepatic glycogen storage diseases are associated to microbial dysbiosis

“…It is not known whether these microbiome changes are a cause or a consequence of the pathophysiologies. However, correcting the dysbiosis can improve health in some patients [50–52]. Dysbiosis can also provide biomarkers for disease detection and management [53].…”

Proteobacteria Overgrowth and Butyrate-Producing Taxa Depletion in the Gut Microbiota of Glycogen Storage Disease Type 1 Patients

“…Probiotics supplementation could offer another way to improve and ameliorate the gut microbial population in GSD patients. Carnero-Gregorio and colleagues [14] recently reported a prospective case study pointing toward this direction: by testing a probiotic mixture in a patient with GSD-Ia and Crohn-like IBD, the authors observed a reduced number of bowel episodes and an improvement the patient's quality of life. Moreover, they found a reduction in Enterobacteriaceae relative abundance after the probiotic treatment.…”

“…Patients with GSD-Ib may be clinically and metabolically identical to those with GSD-Ia (showing typical physical findings, including protuberant abdomen, truncal obesity, doll-like faces, short stature and hypotrophic muscles [6]), but in addition, most patients with GSD-Ib develop neutropenia and neutrophil dysfunction that predispose them to severe infections and to inflammatory bowel disease (IBD) [11,12]. Although the development of IBD is associated to GSD-Ib, few cases of IBD were recently reported in GSD-Ia [13,14]. Dietary treatment is the cornerstone of GSD-I therapy, and it starts at diagnosis and is life-long.…”

Long Term Management of Glycogen Storage Disease Type 1b: A Brazilian Tertiary Center Experience

“…On a different note, there is a growing interest in the use of probiotics in GSD 1b, but the evidence remains anecdotal (19) . More studies are needed to first more broadly the changes in the composition of the gut microbiota in GSD 1b, and later identify whether there will be any specific indications for probiotics in this group of patients.…”