Briefly noted: JM van Rijn et al. Gastroenterol 2018; 155: 130-43.  This study of 10 patients from 6 families (5 had consanguinity) was the largest cohort to date describing the clinical features in this disorder and used patient-derived fibroblasts and organoids to understand the pathophysiology.

Key clinical features:

• Early-onset vomiting and/or diarrhea
• Protein-losing enteropathy/hypoalbuminemia

Key finding in study:

• These patients had altered lipid metabolism and were susceptible to lipid induced cell death.  Thus DGAT1 mutations cause congenital diarrhea and this is linked to fat intolerance.

Related blog posts:

• Lessons in Diarrhea (part 1)
• Lessons in Diarrhea (part 2)
• Patterns and Puzzles with VEO-IBD
• 10 Years of Intractable Diarrhea
• Exome Sequencing in VEO-IBD: More Data
• It’s often elemental

Sunshine Meadows, Banff Natl Park