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Orphanet Journal of Rare Diseases
Primary intestinal lymphangiectasia (Waldmann's disease)
Stéphane Vignes*1 and Jérôme Bellanger2
Address: 1Department of Lymphology, Centre de référence des maladies vasculaires rares, Hôpital Cognacq-Jay, 15, rue Eugène Millon, 75015
Paris, France and 2Department of Gastroenterology and Nutrition, Hôpital Saint-Antoine, AP-HP, 184 rue du Faubourg Saint-Antoine, 75571 Paris
Cedex 12, France
Email: Stéphane Vignes* - email@example.com; Jérôme Bellanger - firstname.lastname@example.org
* Corresponding author
Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal
lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing
enteropathy leading to lymphopenia, hypoalbuminemia and hypogammaglobulinemia. PIL is
generally diagnosed before 3 years of age but may be diagnosed in older patients. Prevalence is
unknown. The main symptom is predominantly bilateral lower limb edema. Edema may be
moderate to severe with anasarca and includes pleural effusion, pericarditis or chylous ascites.
Fatigue, abdominal pain, weight loss, inability to gain weight, moderate diarrhea or fat-soluble
vitamin deficiencies due to malabsorption may also be present. In some patients, limb lymphedema
is associated with PIL and is difficult to distinguish lymphedema from edema. Exsudative
enteropathy is confirmed by the elevated 24-h stool α1-antitrypsin clearance. Etiology remains
unknown. Very rare familial cases of PIL have been reported. Diagnosis is confirmed by endoscopic
observation of intestinal lymphangiectasia with the corresponding histology of intestinal biopsy
specimens. Videocapsule endoscopy may be useful when endoscopic findings are not contributive.
Differential diagnosis includes constrictive pericarditis, intestinal lymphoma, Whipple's disease,
Crohn's disease, intestinal tuberculosis, sarcoidosis or systemic sclerosis. Several B-cell lymphomas
confined to the gastrointestinal tract (stomach, jejunum, midgut, ileum) or with extra-intestinal
localizations were reported in PIL patients. A low-fat diet associated with medium-chain
triglyceride supplementation is the cornerstone of PIL medical management. The absence of fat in
the diet prevents chyle engorgement of the intestinal lymphatic vessels thereby preventing their
rupture with its ensuing lymph loss. Medium-chain triglycerides are absorbed directly into the
portal venous circulation and avoid lacteal overloading. Other inconsistently effective treatments
have been proposed for PIL patients, such as antiplasmin, octreotide or corticosteroids. Surgical
small-bowel resection is useful in the rare cases with segmental and localized intestinal
lymphangiectasia. The need for dietary control appears to be permanent, because clinical and
biochemical findings reappear after low-fat diet withdrawal. PIL outcome may be severe even life-
threatening when malignant complications or serous effusion(s) occur.
Disease name and synonyms
Primary intestinal lymphangiectasia (PIL).
Published: 22 February 2008
Orphanet Journal of Rare Diseases 2008, 3:5 doi:10.1186/1750-1172-3-5
Received: 26 July 2007
Accepted: 22 February 2008
This article is available from: http://www.ojrd.com/content/3/1/5
© 2008 Vignes and Bellanger; licensee BioMed Central Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0),
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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