Researchers studied 34 children with a very rare condition called primary intestinal lymphangiectasia, which causes their bodies to lose too much protein through their intestines. Most children had swelling, diarrhea, and fluid buildup in their bellies. The good news? When doctors put these kids on a special low-fat diet, about 81% of them got better. Even better, about a quarter of the children were able to go back to eating normal food without getting sick again. This study helps doctors understand how to treat this uncommon disease and what to expect for children who have it.

The Quick Take

  • What they studied: How well a special low-fat diet works for treating a rare childhood disease that causes the body to lose too much protein through the intestines
  • Who participated: 34 children (22 boys and 12 girls) diagnosed with primary intestinal lymphangiectasia between 2010 and 2022 in French hospitals. Most were diagnosed before their first birthday, with an average age of about 7 months at diagnosis
  • Key finding: 25 out of 31 children (81%) who tried the special low-fat diet got better. Of these, 10 children had complete improvement with normal protein levels, and 15 had partial improvement. Remarkably, 9 children (26% of the total group) were able to return to eating normal food without their symptoms coming back
  • What it means for you: If a child is diagnosed with this rare condition, there’s a good chance a special diet will help them feel better. Some children may eventually be able to eat normally again. However, if a child has swelling under the skin or certain genetic changes, they may need to stay on the special diet longer. Always work with doctors to monitor progress and adjust treatment as needed.

The Research Details

This was a retrospective study, meaning researchers looked back at medical records of children who had already been treated for this disease. They reviewed information from 34 children treated at university hospitals in France over a 12-year period (2010-2022). The researchers tracked how long each child was sick, what symptoms they had, what treatments they received, and whether they got better.

Doctors defined “getting better” in two ways: complete improvement meant the child’s protein levels returned to normal and they didn’t need blood protein infusions anymore, while partial improvement meant their protein levels were still a bit low but better than before. The researchers followed these children for an average of 4.5 years to see what happened over time.

This approach allowed doctors to learn from real-world experience treating this disease, since it’s so rare that doing a traditional experiment with new patients would be difficult and take many years.

Because primary intestinal lymphangiectasia is extremely rare, there isn’t much information available about what works best to treat it. By studying all the children treated in France’s major hospitals over 12 years, researchers could gather enough information to understand patterns in how the disease starts, what symptoms appear, and which treatments help. This type of study is valuable for rare diseases because it’s often impossible to do larger, more controlled experiments.

This study has several strengths: it includes all children with this diagnosis treated in major hospitals over a long time period, it follows children for several years to see long-term results, and it uses clear definitions for what counts as improvement. However, because it looks back at medical records rather than following new patients forward, some information might be incomplete. The study is limited to France, so results might be slightly different in other countries. The sample size of 34 children is relatively small, but this is actually quite large for such a rare disease.

What the Results Show

The most common symptoms when children were first diagnosed were swelling (79% of children), ongoing diarrhea (50%), and fluid buildup in the belly called ascites (35%). These symptoms made children uncomfortable and caused them to lose weight and protein.

When 31 children started eating a special low-fat diet (which is easier for their damaged intestines to handle), 25 of them (81%) showed improvement. Of these 25 children, 10 had complete improvement with normal protein levels in their blood, while 15 had partial improvement with protein levels that were better but still slightly low.

The most encouraging finding was that 14 children (45% of the group) were eventually able to switch back to eating a completely normal diet without their symptoms returning. Of these 14 children, 9 (26% of the entire group) had such complete and lasting improvement that doctors considered them cured—they stayed healthy even after stopping the special diet.

Four children (12%) needed additional medications beyond just the diet change because the diet alone wasn’t enough to control their symptoms.

The research found that two factors predicted which children would have a harder time getting completely better: having lymphedema (swelling under the skin caused by fluid buildup) and having a genetic change related to the disease. Children with either of these factors were more likely to have only partial improvement and might need to stay on the special diet longer or permanently. This information helps doctors predict which children might need more intensive or longer-term treatment.

Very little research has been published about how to treat primary intestinal lymphangiectasia in children, so this study provides important new information. Previous case reports described individual children, but this is one of the first studies to look at a large group of children and track their outcomes over many years. The finding that about 81% of children respond to diet therapy is encouraging and suggests that this simple treatment should be tried first before considering more complex medications.

This study looked backward at medical records rather than following new patients forward, which means some information might be missing or incomplete. The study only included children treated in France, so the results might be slightly different in other countries with different healthcare practices. The sample size of 34 children is small, though this is actually quite large for such a rare disease. The study didn’t compare the special diet to other treatments, so we can’t say for certain that diet is better than other options. Some children were followed for longer periods than others, which might affect the results.

The Bottom Line

For children newly diagnosed with primary intestinal lymphangiectasia: Start with a special low-fat diet as the first treatment (high confidence—81% of children improved). This diet reduces strain on the damaged intestines and helps the body keep more protein. Monitor protein levels regularly through blood tests. If the diet alone doesn’t work well enough after a reasonable trial period (typically several weeks to months), talk to doctors about adding medications. For children doing well on the diet, doctors may gradually try reintroducing normal foods to see if the child can eventually eat normally (moderate confidence—this worked for about 26% of children in this study).

This information is most important for families with children diagnosed with primary intestinal lymphangiectasia and their medical team. Pediatric gastroenterologists (doctors specializing in children’s digestive systems) should be aware of these results when treating affected children. Parents of children with this diagnosis should know that diet therapy is likely to help and that some children may eventually recover completely. This information is less relevant for the general public since the disease is extremely rare.

Most children showed improvement within weeks to a few months of starting the special diet. Complete improvement (normal protein levels) typically took several months. For children who eventually returned to normal eating, this transition usually happened over months to years of gradual diet changes. Long-term follow-up (several years) is important because some children may relapse or need ongoing dietary management.

Want to Apply This Research?

  • Track weekly blood protein levels (albumin) and daily symptoms including: presence of swelling, number of diarrhea episodes, and any abdominal bloating. Record which foods were eaten each day to identify any patterns with symptom flare-ups.
  • Work with a dietitian to gradually introduce new foods while monitoring symptoms. Start by keeping a detailed food diary, then systematically test adding small amounts of regular foods back into the diet while tracking how the body responds. This helps identify which foods trigger symptoms and which are tolerated well.
  • Set up monthly check-ins to review protein levels and symptom patterns. Create alerts for scheduled blood tests. Track the child’s weight and growth monthly. Document any new symptoms or changes in existing symptoms. Share this data with the medical team at regular appointments to guide decisions about diet modifications.

This summary describes research findings about primary intestinal lymphangiectasia in children. It is not medical advice and should not replace consultation with qualified healthcare providers. If your child has been diagnosed with this condition or shows symptoms like chronic diarrhea, swelling, or protein loss, work closely with a pediatric gastroenterologist for proper diagnosis and treatment planning. Treatment decisions should be individualized based on your child’s specific situation, medical history, and response to therapy. Always consult with your child’s medical team before making changes to diet or treatment.