Recurrent Perianal Abscess and Fistula in a Patient With Glucose-6-Phosphate Dehydrogenase (G6pd) Deficiency: A Case Report Publisher Pubmed

Summary: Can G6PD deficiency relate to recurrent anal infections? A case found a pathogenic variant with abscesses and fistula; a causal link remains unproven. #Genetics #RareDisease

Dehghani M ; Sariri F ; Zeinalian M
Source: BMC Gastroenterology Published:2026

Abstract

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited enzymatic disorder, typically associated with hemolytic anemia. However, emerging evidence points to its involvement in a wider range of physiological processes, including the regulation of oxidative stress, immune defense, and epithelial repair which could lead to various manifestations. This is the first report of association between G6PD deficiency and perianal abscess and fistula. Case presentation: A 16-year-old male with a five-year history of recurrent perianal abscess and fistula presented with renewed symptoms despite prior surgical management. His mother and brother had also reportedly been diagnosed with perianal abscess and fistula. Laboratory findings showed anemia and elevated inflammatory markers, while imaging revealed an intersphincteric fistula tract. Colonoscopy exhibited focal active ileitis without granulomas. Whole-exome sequencing identified a hemizygous pathogenic/likely pathogenic mutation in the G6PD gene (c.653 C > T), suggesting a genetic contribution to the chronic inflammatory process. Conclusions: This case highlights a possible association between G6PD deficiency and recurrent perianal abscess and fistula. Impaired immune response and epithelial repair linked to G6PD dysfunction may contribute to chronic perianal disease. Further studies are warranted to clarify this potential relationship. © The Author(s) 2026.