(Primary Intestinal Lymphangiectasia, PIL)
Cause unknown. Abnormalities in the regulation of genes involved in the development of the lymphatic system have been reported: VEGFR3, PROX1, FOXC2, SOX18. A few familial cases have been described.
Association of :
- bilateral edema of the lower limbs: this may be moderate or severe, and may be associated with pericarditis, ascites (chylous or not) or pleural effusion. Lymphoedema of the limbs, difficult to distinguish from edema, may be associated.
- enteropathy with protein loss and hypoalbuminemia. Fatigue, abdominal pain, weight loss or inability to gain weight, stunted growth in children, moderate diarrhea, fat-soluble vitamin deficiency due to malabsorption or iron deficiency with moderate anemia may also be present.
- diagnosis is usually made before 3 years of age, but may be delayed if symptoms are not severe.
Characteristic biochemical findings associated with lymphatic leakage into the intestinal lumen include lymphopenia, hypoalbuminemia, hypogammaglobulinemia, hypocalcemia and hypocholesterolemia.
The risk of B-cell lymphoma confined to the gastrointestinal tract (stomach, jejunum, midgut or ileum) or of extra-intestinal localization appears to be increased.
Treatment: low-fat diet combined with medium-chain triglyceride supplementation (which is absorbed directly into the portal venous circulation and prevents overloading of the chyliferous vessels). Octreotide is effective in some patients. Sirolimus or everolimus are sometimes effective. Surgical resection of the small intestine is useful in rare cases of segmental, localized intestinal lymphangiectasia. Albumin infusions, supplementation with fat-soluble vitamins, B12 and iron.
Anesthetic implications:
check plasma albumin and protein levels, hemoglobin, iron and ferritin; avoid skin trauma to affected limb; hypoproteinemia, malnutrition, susceptibility to infection.
References :
- Boursier V, Vignes S.
Lymphangiectasies intestinales primitives (maladie de Waldmann) révélées par un lymphoedème des membres.
J Mal Vasc 2004 ; 29 : 103-6.
- Vignes S, Vidal F, Arrault M, Boccara O.
Les lymphoedèmes primaires de l’enfant.
Arch Pédiatr 2017; 24: 766-76
- Munck A, Sosa Valencia G, Faure C, Besnard M, Ferkdadji L, Cézard JP, Mougenot JF, Navarro J.
Suivi de long cours des lymphangiectasies intestinales primitives de l'enfant. A propos de six cas.
Arch Pediatr 2002;9:388-91.
- El Haddar Z, Sbia Y, Rkain M, Benajiba N, Babakhouya A.
Complicated primary intestinal lymphangiectasia (Waldmann’s disease) in a child successfully treated with octreotide: A case report from a low-resource setting.
Annals of Medicine and Surgery 2021 ; 68 : 102588
- Protocole National de Diagnostic et de Soins (France): Lymphangiectasies intestinales primitives (malade de Waldmann)
https://www.has-sante.fr/jcms/p_3390524/fr/lymphangiectasies-intestinales-primitives-maladie-de-waldmann
Updated: May 2025