Primary intestinal lymphangiectasia (Waldmann's disease)

Department of Lymphology, Centre de référence des maladies vasculaires rares, Hôpital Cognacq-Jay, 15, rue Eugène Millon, 75015 Paris, France.
Orphanet Journal of Rare Diseases (Impact Factor: 3.96). 02/2008; 3:5. DOI: 10.1186/1750-1172-3-5
Source: PubMed

ABSTRACT 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 alpha1-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.

  • Source
    • "Although octreotide may help to maintain serum albumin levels and decrease the need for albumin infusions, results were variable among a small number of patients [9]. Albumin infusion appears to only transiently relieve symptoms [1]. Small bowel resection for PIL can be Fig. 1. "
    [Show abstract] [Hide abstract]
    ABSTRACT: Primary intestinal lymphangiectasia is a rare disorder characterized by severe protein-losing enteropathy resulting in lymphopenia, hypoalbuminemia, and hypogammaglobulinemia. It may be associated with limb lymphedema, chylous ascites, and abdominal lymphatic malformations. We describe a 20 year-old female with progressive primary intestinal lymphangiectasia, severe bilateral lower extremity lymphedema and a massive abdominal and retroperitoneal lymphatic malformation who developed debilitating symptoms and protein/calorie malnutrition. Our treatment approach included multidisciplinary management and eventual surgical debulking resection. Although the management of primary intestinal lymphangiectasia is usually medical, in the rare case of primary intestinal lymphangiectasia with associated chylous ascites and extensive abdominal lymphatic malformation, surgical resection appears to be a safe and successful strategy to improve nutrition and quality of life. As in the present case, complex and severe vascular anomalies necessitate a combined treatment approach, which is available at multidisciplinary vascular anomalies centers.
    12/2013; 1(12). DOI:10.1016/j.epsc.2013.10.014
  • [Show abstract] [Hide abstract]
    ABSTRACT: IntroductionLe syndrome d’APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) est une maladie rare, de transmission autosomique récessive, liée aux mutations du gène AIRE. Son diagnostic repose classiquement sur l’association de deux des trois critères majeurs suivants: candidose cutanéomuqueuse chronique, hypoparathyroïdie et insuffisance surrénale d’origine autoimmune. D’autres manifestations endocriniennes et autoimmunes peuvent compléter le tableau. En revanche, l’association de cette polyendocrinopathie à une lymphangiectasie intestinale a été rapportée trois fois, posant un problème d’ordre nosologique sur le caractère fortuit ou non de cette association. ObservationNous rapportons l’observation d’une patiente, âgée de 33 ans, chez qui le diagnostic du syndrome d’APECED était retenu devant l’association d’une candidose buccale et vulvaire chronique depuis l’enfance, une dysplasie des ongles, une hypoparathyroïdie. La lymphangiectasie intestinale a été découverte lors d’une fibroscopie œsogastroduodenale motivée par la constatation d’une hypoprotidémie et d’une lymphopénie. ConclusionLa lymphangiectasie intestinale pourrait être une manifestation non endocrinienne du syndrome d’APECED. IntroductionAPECED syndrome is a rare disease, with autosomal recessive transmission and associated with mutations of the AIRE gene. Its diagnosis is classically based on the combination of any two of the following three major criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune chronic adrenocortical insufficiency (Addison disease). In addition, several endocrine and auto-immune manifestations may occur. However, only three cases of APECED syndrome associated with intestinal lymphangiectasia have been reported, raising the question of a chance association. ExegesisWe report the case of a 33-year old woman, in which the diagnosis of APECED syndrome was retained because of the association of chronic oral and vulvar candidiasis, nail dystrophy, hypoparathyroidism. The intestinal lymphangiectasia was diagnosed during an oesophagogastroduodenoscopy moved by hypoproteinemia and lymphocytopenia. ConclusionIntestinal lymphangiectasia may be a component of APECED syndrome.
    Journal Africain d?Hépato-Gastroentérologie 06/2009; 3(2):71-74. DOI:10.1007/s12157-009-0085-x
  • [Show abstract] [Hide abstract]
    ABSTRACT: Not Available
    Vacuum Microelectronics Conference, 1997. Technical Digest., 1997 10th International; 09/1997

Preview (3 Sources)

Available from