Primary intestinal lymphangiectasia: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

作者：S. Vignes, M. Uzzan, L. Arrivé, F. Le Pimpec-Barthes, C. Fieschi, G. Lefèvre, Manon Javalet, Joanna Bettolo, Béatrice Dubern · 发表于：Orphanet Journal of Rare Diseases · 年份：2025 · DOI：10.1186/s13023-025-03657-9 · 被引用次数：6 · 研究领域：Medicine

Primary intestinal lymphangiectasia or Waldmann’s disease (ORPHA code: 90362) is a very rare disorder of unknown etiology, characterized by digestive lymphatic vessel dilations. The objective of the French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins) is to provide health professionals with information about the optimal management and care for patients, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Centers for Rare Vascular diseases and Rare Digestive diseases, is available from the French Health Authority website. The latter allow lymph leakage (chyle) into the intestinal lumen that is responsible for protein-losing gastroenteropathy, combining hypoalbuminemia, lymphopenia and hypogammaglobulinemia. Diagnosis is usually made before the age of 3, but primary intestinal lymphangiectasia may be discovered in adults. Edema of the lower limbs is the main clinical sign and serous effusions (pleura, peritoneum, pericardium) are sometimes abundant. Exudative gastroenteropathy is confirmed by increased α1-antitrypsin clearance. Esophagogastroduodenoscopy finds milky lesions corresponding to lymphangiectasias; duodenal biopsies confirm the diagnosis. Endoscopic videocapsule may be useful to evaluate the extent of the disease and/or if esophagogastroduodenoscopy is not contributory. In rare cases, the disease may be complicated by digestive or extra-...