Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children.
Features include: Abnormal hair morphology, Malabsorption, Neonatal hypoproteinemia, and Edema and 5 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 2 | Malabsorption, Intestinal lymphangiectasia |
Pregnancy and birth |
Biomarker and diagnostic research for primary intestinal lymphangiectasia has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for primary intestinal lymphangiectasia.
23 publications have been identified in PubMed for primary intestinal lymphangiectasia. Research spans Case Report / Case Series (65%), Review / Meta-Analysis (13%), and Epidemiology / Natural History (13%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 15 | 65% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1
Neonatal hypoproteinemia |
Research summaries
3 |
13% |
Disease patterns and progression | 3 | 13% |
Other research | 1 | 4% |
Testing and diagnosis research | 1 | 4% |
Jennings N (2026). [PMID: 42110125](https://pubmed.ncbi.nlm.nih.gov/42110125/). *JPGN Rep*. [Case Report / Case Series]
Hroub M (2026). [PMID: 41943452](https://pubmed.ncbi.nlm.nih.gov/41943452/). *J Investig Med High Impact Case Rep*. [Case Report / Case Series]
Gaur K (2026). [PMID: 41685404](https://pubmed.ncbi.nlm.nih.gov/41685404/). *Pediatr Med Chir*. [Case Report / Case Series]
Goret N (2026). [PMID: 41277165](https://pubmed.ncbi.nlm.nih.gov/41277165/). *J Pediatr Gastroenterol Nutr*. [Epidemiology / Natural History]
Li Y (2026). [PMID: 41122770](https://pubmed.ncbi.nlm.nih.gov/41122770/). *Clin Endosc*. [Case Report / Case Series]
Dai C (2026). [PMID: 40737280](https://pubmed.ncbi.nlm.nih.gov/40737280/). *Rev Esp Enferm Dig*. [Case Report / Case Series]
Ross R (2025). [PMID: 39805283](https://pubmed.ncbi.nlm.nih.gov/39805283/). *Lancet Gastroenterol Hepatol*. [Review / Meta-Analysis]
Noble O (2025). [PMID: 40626263](https://pubmed.ncbi.nlm.nih.gov/40626263/). *ACG Case Rep J*. [Case Report / Case Series]
Vignes S (2025). [PMID: 40640921](https://pubmed.ncbi.nlm.nih.gov/40640921/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]
Oliveira IM (2025). [PMID: 40201832](https://pubmed.ncbi.nlm.nih.gov/40201832/). *Open Vet J*. [Case Report / Case Series]
AI-curated news mentioning primary intestinal lymphangiectasia
Updated Jul 29, 2026
A scoping review highlights the role of intestinal ultrasound in diagnosing primary intestinal lymphangiectasia, also known as Waldmann's disease. The study includes an illustrative case, emphasizing the potential of ultrasound as a diagnostic tool in this rare condition.
A case report highlights profound protein-losing enteropathy and gastrointestinal hemorrhage due to intestinal lymphangiectasia in a patient with DiGeorge syndrome. This study contributes to the understanding of gastrointestinal complications associated with this genetic disorder.