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)

Link to full text from AGA twitter feed:  A Rare Cause of Generalized Edema

Background: “A 19-year-old boy presented to our hospital because of a 6-month history of progressive dyspnea and generalized edema. He developed cough, abdominal fullness, diarrhea, and leg edema 5 years ago. Liver cirrhosis was suspected at that time…Chest radiography showed bilateral pleural effusions (Figure A). Abdominal computed tomography demonstrated large amount of ascites (Figure B). … Subsequently, antegrade double-balloon enteroscopy …demonstrated nodular mucosal lesions with a milk-like surface in the duodenum (Figure C). Moreover, snow flake appearance of mucosa was found in the jejunum and proximal ileum (Figure D). However, a normal appearance of mucosa was identified in the middle ileum (Figure E).”

The Answer: 

“Histologic examination shows chronic inflammation of the ileum characterized by increased lymphoplasma cell infiltration of lamina propria without malignancy. Moreover, marked dilatation of lymphatic ducts that involved the mucosa was identified (Figure F)… a diagnosis of primary intestinal lymphangiectasia (PIL) was made.