N Goret et al. J Pediatr Gastroenterol Nutr. 2026;82:398–406. Open Access! Clinical presentation, treatment, and outcome of children with primary intestinal lymphangiectasia: A national retrospective study

This French retrospective study included 34 children (2010-2022) and had a median followup of 4.5 years.

Key findings:

• Edema (79%), chronic diarrhea (50%), and ascites (35%) were the main symptoms. All of the patients had hypoalbuminemia and decreased IgG
• Thirty-one patients received a low long-chain triglycerides dietary therapy and 25 (81%) responded: 15 had a partial response and 10 a complete response. A normal diet could be reintroduced in 14 patients (45%) without relapse during the follow-up
• A genetic variant was identified in 5 (33%) of those with a partial response to diet and in none of those with a complete response to diet. Similarly, 6 (40%) of those with a partial response had lymphedema and none in those with a complete response. Both of these were statistically significant (p  < 0.05)
• Seven patients (21%) received parenteral nutrition for a median duration of 4 weeks (1.5–14) due to profuse diarrhea accompanied by malnutrition
• Second-line treatment with either sirolimus or octreotide were ineffective

Discussion/Introduction Points:

• Regular monitoring of fat-soluble vitamin levels and essential fatty acids … is crucial during this diet to detect potential deficiencies associated with a fat-free diet.
• The current definition is based on the presence of peripheral lymphatic malformations associated in some cases with genetic defects affecting endothelial, connective tissue, immune, or metabolic functions.²⁴

My take: In this cohort, the diagnosis seems uncertain in those with a mild presentation and/or ability to tolerate reintroduction of a normal diet. A few patients that I have seen with this disorder continued with very low albumin and required albumin infusions and electrolyte supplements. More stringent diagnostic criteria/genetic testing are needed for children with presumptive primary intestinal lymphangiectasia.

Related blog posts:

• Picture Quiz: Intestinal Cause of Edema
• Lessons in Diarrhea (part 2)