Apoptotic enteropathy, gluten intolerance, and IBD-like inflammation associated with lipotoxicity in DGAT1 deficiency–related diarrhea: a case report of a 17-year-old patient and literature review

Abstract

We present a long-term follow-up in a 17-year-old girl with DGAT1-related diarrhea, an autosomal recessive disorder characterized by impaired triglyceride absorption. Neonatal presentation included severe congenital diarrhea, protein-losing enteropathy and failure to thrive requiring total parenteral nutrition. Duodenal biopsies revealed apoptotic enteropathy and acute inflammation with the presence of macrophages and Touton giant cells, related to the intake of fat. She was able to switch to enteral nutrition on a fat-free diet. However, at age 10 she developed gluten-induced enteropathy and then IBD-like inflammation five years later. Immunohistochemistry was able to confirm the diagnosis, while DGAT1 sequencing remained inconclusive. This highlights the role of histopathology and immunohistochemistry, despite the increasing importance of genetic analysis in the diagnostic workup. This report also illustrates that parenteral nutrition weaning is possible in DGAT1-related diarrhea, but gut barrier dysfunction might increase the risk of autoimmune intestinal disease.

Case report: Diagnosis and treatment of DGAT1 deficiency-induced congenital diarrhea in two cases and literature review

“…Neither case was subjected to enteroscopy or pathological examination; thus, DGA1 protein expression in intestinal epithelial cells could not be assessed, considering that ( 7 ) diarrhea symptoms in children are correlatedwith the amount of residual DGAT1 enzyme activity in intestinal epithelial cells. One study emphasized the importance of immunohistochemistry in the diagnosis of rare diseases ( 8 ). It describes an infant developing diarrhea, growth retardation, and hypoalbuminemia 6 weeks after birth.…”