Sandbox:Riad
Historical perspective:
Primary intestinal lymphangiectasia (Waldmann's disease) was first discovered by Waldmann T.A. in 1961 when he reported 18 cases of patients having edema with low serum albumin and gammaglobulin and proteins levels ''idiopathic hypercatabolic hypoproteinemia". Assessment using radio-labeled 131I-albumin resulted in low levels in those patients. In addition, small intestinal biopsies were examined under microscope revealing different degrees of lymphatic vessel dilatation.
Pathophysiology:
Pathology: PIL develops as a result of dilatation of intestinal lymphatic vessels (lacteals) with leakage of their contents into the bowel lumen leading to hypoalbuminemia, hypogammaglobulinemia and lymphopenia. Hypoproteinemia leads to edema. It is a form of protein losing enteropathy.
Genetics: Genes involved in the pathogenesis of PIL includes VEGFR3, LYVE-1, PROX1 and FOXC2 that are abnormally expressed in patients with PIL.
Associated conditions: There are five syndromes that have been reported to be associated with PIL. These syndromes include:
Turner syndrome
Noonan syndrome
von Recklinghausen disease
Klippel-Trenaunay syndrome
Hennekam syndrome
Gross pathology:
The jejunal villi appear creamy yellowish or whitish due to the dilated lymphatics in the intestinal mucosa.
Microscopic Pathology:
The most important histopathological characteristics of PIL are dilated intestinal lymphatic vessels and lacteal juice in the biopsies from duodenum, jejunum and ileum.
Differential diagnosis:
PIL must be differentiated from the secondary causes that lead to intestinal lymphangiectasia such as intestinal tuberculosis[1], inflammatory bowel disease[2], intestinal lymphoma[3], constrictive pericarditis[4], sarcoidosis[5], systemic sclerosis[6], whipple disease[7], radiation and/or chemotherapy with retroperitoneal fibrosis[8] and HIV-related enteropathy[9].
References
- ↑ Ploddi A, Atisook K, Hargrove NS (1988). "Intestinal lymphangiectasia in intraabdominal tuberculosis". J Med Assoc Thai. 71 (9): 518–23. PMID 3249186.
- ↑ STEINFELD JL, DAVIDSON JD, GORDON RS, GREENE FE (1960). "The mechanism of hypoproteinemia in patients with regional enteritis and ulcerative colitis". Am J Med. 29: 405–15. doi:10.1016/0002-9343(60)90036-x. PMID 13834226.
- ↑ SUM PT, HOFFMAN MM, WEBSTER DR (1964). "PROTEIN-LOSING GASTROENTEROPATHY IN PATIENTS WITH GASTROINTESTINAL CANCER". Can J Surg. 7: 1–5. PMID 14103417.
- ↑ Wilkinson P, Pinto B, Senior JR (1965). "Reversible protein-losing enteropathy with intestinal lymphangiectasia secondary to chronic constrictive pericarditis". N Engl J Med. 273 (22): 1178–81. doi:10.1056/NEJM196511252732202. PMID 5847556.
- ↑ Popović OS, Brkić S, Bojić P, Kenić V, Jojić N, Djurić V; et al. (1980). "Sarcoidosis and protein losing enteropathy". Gastroenterology. 78 (1): 119–25. PMID 7350018.
- ↑ van Tilburg AJ, van Blankenstein M, Verschoor L (1988). "Intestinal lymphangiectasia in systemic sclerosis". Am J Gastroenterol. 83 (12): 1418–9. PMID 3195550.
- ↑ Laster L, Waldmann TA, Fenster LF, Singleton JW (1966). "Albumin metabolism in patients with Whipple's disease". J Clin Invest. 45 (5): 637–44. doi:10.1172/JCI105379. PMC 292741. PMID 4160668.
- ↑ Rao SS, Dundas S, Holdsworth CD (1987). "Intestinal lymphangiectasia secondary to radiotherapy and chemotherapy". Dig Dis Sci. 32 (8): 939–42. doi:10.1007/BF01296718. PMID 3608736.
- ↑ Stockmann M, Fromm M, Schmitz H, Schmidt W, Riecken EO, Schulzke JD (1998). "Duodenal biopsies of HIV-infected patients with diarrhoea exhibit epithelial barrier defects but no active secretion". AIDS. 12 (1): 43–51. doi:10.1097/00002030-199801000-00006. PMID 9456254.