# Clinical presentation, treatment, and outcome of children with primary intestinal lymphangiectasia: A national retrospective study

## TL;DR

This study examines how children with primary intestinal lymphangiectasia respond to dietary therapy and identifies factors linked to treatment outcomes.

## Contribution

The study provides new insights into treatment responses and long-term outcomes in children with PIL based on a national cohort.

## Key findings

- Most children with PIL responded to low long-chain triglycerides dietary therapy, with 81% showing some improvement.
- Lymphedema or genetic variants were associated with a chronic, partial response to diet therapy.
- About 26% of children achieved complete remission and could return to a normal diet without relapse.

## Abstract

Primary intestinal lymphangiectasia (PIL) is a very rare disease responsible for protein‐losing enteropathy. There is little published data about treatments efficacy and outcomes. Our main objective was to describe the clinical profile, response to therapy, and outcomes of children with PIL.

We conducted a national retrospective study including children with PIL followed in French university hospitals between 2010 and 2022. Response to treatment was defined as clinical remission and no need for albumin infusion. Response was considered complete if albuminemia was normal (>35 g/l) during follow‐up and partial if less than 35 g/l.

Thirty‐four children (22 males) were included; median age at diagnosis was 7 (3–29,5) months. The median follow‐up in our cohort was 4.5 years. Edema (79%), chronic diarrhea (50%), and ascites (35%) were the main symptoms. 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. Four patients (12%) required a second‐line drug treatment. The presence of lymphedema or an identified genetic variant were associated with a partial response to diet (p
 < 0.05). A normal diet could be reintroduced in 14 patients (45%) without relapse during the follow‐up. Among them, nine children (26%) were considered cured with a complete and prolonged remission under a normal diet.

Most children with PIL responded to diet therapy and about a quarter of the cohort had a good prognosis with complete remission even after discontinuation of the diet. Presence of lymphedema or a genetic variant was associated with a chronic condition.

Dietary management is usually the first treatment for primary intestinal lymphangiectasia (PIL) and the majority of children respond to it.The utilization of second‐line treatments remains a subject of controversy in the literature.

Dietary management is usually the first treatment for primary intestinal lymphangiectasia (PIL) and the majority of children respond to it.

The utilization of second‐line treatments remains a subject of controversy in the literature.

We describe two distinct evolution profiles for children who have a clinical response to the diet. The majority exhibited a partial response with persistent asymptomatic hypoalbuminemia, while some demonstrated a complete response with rapid and stable normalization of albumin levels.Use of second‐line treatments is infrequent in our cohort (12% of patients).

We describe two distinct evolution profiles for children who have a clinical response to the diet. The majority exhibited a partial response with persistent asymptomatic hypoalbuminemia, while some demonstrated a complete response with rapid and stable normalization of albumin levels.

Use of second‐line treatments is infrequent in our cohort (12% of patients).