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, inflammatory bowel disease, intestinal lymphoma, constrictive pericarditis, sarcoidosis, systemic sclerosis, whipple disease, radiation and/or chemotherapy with retroperitoneal fibrosis , HIV-related enteropathyand celiac disease[1].
Signs and symptoms:
The hallmark of PIL is pitting edema which usually affects lower limbs in moderate cases and face and external genitalia in severe cases. In some cases, it can extend to serous membranes causing pericardial effusion, pleural effusion and chylous ascitis. Rarely, it can cause anasarca.
Other symptoms include: - Diarrhea, steatorrhea and malabsorption syndrome[2]
- Fatigue
- Abdominal pain
- Abdominal mass[3]
- Immunodeficiency
- Vitamin D deficiency Leading to osteomalacia and convulsion
- Iron deficiency anemia
- Mechanical ileus[4]
- Chylous reflux into skin[5]
- Recurrent GI bleeding[6]
References
- ↑ Perisic VN, Kokai G (1992). "Coeliac disease and lymphangiectasia". Arch Dis Child. 67 (1): 134–6. doi:10.1136/adc.67.1.134. PMC 1793534. PMID 1739329.
- ↑ Lobo B, Casellas F, de Torres I, Chicharro L, Malagelada JR (2004). "Usefulness of jejunal biopsy in the study of intestinal malabsorption in the elderly". Rev Esp Enferm Dig. 96 (4): 259–64. doi:10.4321/s1130-01082004000400005. PMID 15117239.
- ↑ Rao R, Shashidhar H (2007). "Intestinal lymphangiectasia presenting as abdominal mass". Gastrointest Endosc. 65 (3): 522–3, discussion 523. doi:10.1016/j.gie.2006.10.026. PMID 17321261.
- ↑ Lenzhofer R, Lindner M, Moser A, Berger J, Schuschnigg C, Thurner J (1993). "Acute jejunal ileus in intestinal lymphangiectasia". Clin Investig. 71 (7): 568–71. doi:10.1007/BF00208483. PMID 8374252.
- ↑ O'Driscoll JB, Chalmers RJ, Warnes TW (1991). "Chylous reflux into abdominal skin simulating lymphangioma circumscriptum in a patient with primary intestinal lymphangiectasia". Clin Exp Dermatol. 16 (2): 124–6. doi:10.1111/j.1365-2230.1991.tb00322.x. PMID 2032374.
- ↑ Herfarth H, Hofstädter F, Feuerbach S, Jürgen Schlitt H, Schölmerich J, Rogler G (2007). "A case of recurrent gastrointestinal bleeding and protein-losing gastroenteropathy". Nat Clin Pract Gastroenterol Hepatol. 4 (5): 288–93. doi:10.1038/ncpgasthep0812. PMID 17476211.