Skip to main content

Primary Intestinal Lymphangiectasia: Four Case Reports and a Review of the Literature

Digestive Diseases and Sciences volume 55, pages 3466–3472 (2010)Cite this article

Abstract

Background

Primary intestinal lymphangiectasia (PIL) is a rare digestive disease and most articles on this condition are isolated case reports.

Aims

Our purpose is to investigate the clinical characteristics, therapeutic management, and outcome of PIL through case studies.

Methods

We conducted a retrospective analysis and obtained detailed clinical information for four PIL patients treated at our institution. A MEDLINE database search was also performed using the search term “intestinal lymphangiectasia” and all pertinent literature was carefully reviewed.

Results

Four children treated in our department showed elevated IgE and a good response to diet intervention. After reviewing the literature, we conducted statistical analysis on the basis of all the cases, with a total of 84 cases. Thirty-eight cases have been reported with diet treatment, 24 (63%) of whom showed apparent improvement in clinical symptoms and laboratory parameters. Four cases (5%) had a malignant transformation of lymphoma, and the average time from PIL onset to lymphoma diagnosis was 31 years (range, 19–45 years). No difference was observed regarding the presence of major clinical manifestations among children and adults. Diet intervention in children was more effective than that in adults.

Conclusions

Diet intervention is the cornerstone of PIL medical management, which was found to be more effective in children than in adults. Early diagnosis and treatment of IL is of great importance for effective diet therapy. An elevated IgE level should be monitored periodically since it could be an indication of malignant transformation-lymphoma.

This is a preview of subscription content, access via your institution.

Access options

Buy single article

Instant access to the full article PDF.

43,34 €

Price includes VAT (Finland)
Tax calculation will be finalised during checkout.

Fig. 1
Fig. 2

References

  1. Vignes S, Bellanger J. Primary intestinal lymphangiectasia (Waldmann’s disease). Orphanet J Rare Dis. 2008;3:5.

    Article  PubMed  Google Scholar 

  2. Lee J, Kong MS. Primary intestinal lymphangiectasia diagnosed by endoscopy following the intake of a high-fat meal. Eur J Pediatr. 2008;167(2):237–239.

    Article  PubMed  Google Scholar 

  3. Liu NF, Lu Q, Wang CG, et al. Magnetic resonance imaging as a new method to diagnose protein-losing enteropathy. Lymphology. 2008;41(3):111–115.

    PubMed  Google Scholar 

  4. Yakami Y, Watanabe K, Kameda N, et al. Efficacy of double balloon enteroscopy for patients with intestinal lymphangiectasia, case report of primary intestinal lymphangiectasia. Nippon Shokakibyo Gakkai Zasshi. 2008;105(11):1612–1618.

    PubMed  Google Scholar 

  5. Martin CC, Garcia AF, Restrepo JM, et al. Successful dietetic-therapy in primary intestinal lymphangiectasia and recurrent chylous ascites: a case report. Nutr Hosp. 2007;22(6):723–725.

    PubMed  Google Scholar 

  6. Van Biervliet S, Velde SV, Robberecht E, et al. Hypocalcaemic seizures: sign of intestinal disease? Acta Gastroenterol Belg. 2007;70(2):243–244.

    PubMed  Google Scholar 

  7. Pratz KW, Dingli D, Smyrk TC, et al. Intestinal lymphangiectasia with protein-losing enteropathy in Waldenstrom macroglobulinemia. Medicine (Baltimore). 2007;86(4):210–214.

    Article  Google Scholar 

  8. Cole SL, Ledford DK, Lockey RF, et al. Primary gastrointestinal lymphangiectasia presenting as cryptococcal meningitis. Ann Allergy Asthma Immunol. 2007;98(5):490–492.

    Article  PubMed  Google Scholar 

  9. Hosoyamada T. Clinical studies of pediatric malabsorption syndromes. Fukuoka Igaku Zasshi. 2006;97(11):322–350.

    PubMed  Google Scholar 

  10. Moller A, Kalhoff H, Reuter T, et al. Congenital intestinal lymphangiectasia: a rare differential diagnosis in hypoproteinemia in infants. Klin Padiatr. 2006;218(4):224–225.

    CAS  Article  PubMed  Google Scholar 

  11. Heruth M, Muller P, Liebscher L, et al. Exudative enteropathy in congenital lymphedema-lymphangiectasia syndrome. Klin Padiatr. 2006;218(1):27–30.

    CAS  Article  PubMed  Google Scholar 

  12. Boursier V, Vignes S. Limb lymphedema as a first manifestation of primary intestinal lymphangiectasia (Waldmann’s disease). J Mal Vasc. 2004;29(2):103–106.

    CAS  Article  PubMed  Google Scholar 

  13. Loreti L, Masselli G, Melisi MT, et al. Intestinal lymphangiectasia. Rays. 2003;28(4):409–416.

    PubMed  Google Scholar 

  14. Greco F, Piccolo G, Sorge A, et al. Early-onset of primary intestinal lymphangiectasia. A case report and diet treatment. Minerva Pediatr. 2003;55(6):615–619.

    CAS  PubMed  Google Scholar 

  15. Strehl J, Schepke M, Wardelmann E, et al. Chronic diarrhea in a 43-year-old patient. Internist (Berl). 2003;44(5):626–630.

    CAS  Google Scholar 

  16. Christu KA, Pastaka C, Papadopoulos D, et al. Yellow nail syndrome or diffuse lymphatic network disease. Acta Medica (Hradec Kralove). 2002;45(4):181–182.

    Google Scholar 

  17. Kuroiwa G, Takayama T, Sato Y, et al. Primary intestinal lymphangiectasia successfully treated with octreotide. J Gastroenterol. 2001;36(2):129–132.

    CAS  Article  PubMed  Google Scholar 

  18. Schmider A, Henrich W, Reles A, et al. Isolated fetal ascites caused by primary lymphangiectasia: a case report. Am J Obstet Gynecol. 2001;184(2):227–228.

    CAS  Article  PubMed  Google Scholar 

  19. Keberle M, Mork H, Jenett M, et al. Computed tomography after lymphangiography in the diagnosis of intestinal lymphangiectasia with protein-losing enteropathy in Noonan’s syndrome. Eur Radiol. 2000;10(10):1591–1593.

    CAS  Article  PubMed  Google Scholar 

  20. Alfano V, Tritto G, Alfonsi L, et al. Stable reversal of pathologic signs of primitive intestinal lymphangiectasia with a hypolipidic, MCT-enriched diet. Nutrition. 2000;16(4):303–304.

    CAS  Article  PubMed  Google Scholar 

  21. Huppke P, Christen HJ, Sattler B, et al. Two brothers with Hennekam syndrome and cerebral abnormalities. Clin Dysmorphol. 2000;9(1):21–24.

    CAS  Article  PubMed  Google Scholar 

  22. Guzman AE, Silva A. Bilateral groin adenolymphoceles: an unusual presentation of chylous reflux. Lymphology. 1999;32(2):58–63.

    CAS  PubMed  Google Scholar 

  23. Zelmanovitz F. Location of regional intestinal lymphangiectasia using Tc-99m dextran lymphoscintigraphy. Clin Nucl Med. 1999;24(3):210–211.

    CAS  Article  PubMed  Google Scholar 

  24. Rust C, Pratschke E, Hartl W, et al. Fibrotic entrapment of the small bowel in congenital intestinal lymphangiectasia. Am J Gastroenterol. 1998;93(10):1980–1983.

    CAS  Article  PubMed  Google Scholar 

  25. Ballinger AB, Farthing MJ. Octreotide in the treatment of intestinal lymphangiectasia. Eur J Gastroenterol Hepatol. 1998;10(8):699–702.

    CAS  PubMed  Google Scholar 

  26. Hauser B, Moreels T, Urbain D, et al. Intestinal lymphangiectasia. J Pediatr Gastroenterol Nutr. 2009;48(2):125.

    Article  PubMed  Google Scholar 

  27. Nisli K, Oner N, Kayserili H, et al. A case of Hennekam syndrome presenting with massive pericardial effusion. Turk Kardiyol Dern Ars. 2008;36(5):325–328.

    PubMed  Google Scholar 

  28. Paggi S, Ferrero S, Braidotti P, et al. Neuromuscular alterations in the dilated ileum of an adult patient with segmental lymphangiectasia. Eur J Gastroenterol Hepatol. 2008;20(9):935–938.

    Article  PubMed  Google Scholar 

  29. Hokari R, Kitagawa N, Watanabe C, et al. Changes in regulatory molecules for lymphangiogenesis in intestinal lymphangiectasia with enteric protein loss. J Gastroenterol Hepatol. 2008;23(7 Pt 2):e88–e95.

    Article  PubMed  Google Scholar 

  30. Katoch P, Bhardwaj S. Lymphangiectasia of small intestine presenting as intussusception. Indian J Pathol Microbiol. 2008;51(3):411–412.

    Article  PubMed  Google Scholar 

  31. Fry LC, Bellutti M, Neumann H, et al. Utility of double-balloon enteroscopy for the evaluation of malabsorption. Dig Dis. 2008;26(2):134–139.

    Article  PubMed  Google Scholar 

  32. Makharia GK, Tandon N, Stephen Nde J, et al. Primary intestinal lymphangiectasia as a component of autoimmune polyglandular syndrome type I: a report of 2 cases. Indian J Gastroenterol. 2007;26(6):293–295.

    PubMed  Google Scholar 

  33. Kalman S, Bakkaloglu S, Dalgic B, et al. Recurrent hemolytic uremic syndrome associated with intestinal lymphangiectasia. J Nephrol. 2007;20(2):246–249.

    CAS  PubMed  Google Scholar 

  34. Fang YH, Zhang BL, Wu JG, et al. A primary intestinal lymphangiectasia patient diagnosed by capsule endoscopy and confirmed at surgery: a case report. World J Gastroenterol. 2007;13(15):2263–2265.

    PubMed  Google Scholar 

  35. Rao R, Shashidhar H. Intestinal lymphangiectasia presenting as abdominal mass. Gastrointest Endosc. 2007;65(3):522–523. discussion 523.

    Article  PubMed  Google Scholar 

  36. Vignes S, Bellanger J. Intérêt de l'entéroscopie par vidéocapsule dans le diagnostic des lymphangiectasies intestinales primitives. Rev Med Interne. 2007;28(3):173–175.

    CAS  Article  PubMed  Google Scholar 

  37. Rivet C, Lapalus MG, Dumortier J, et al. Use of capsule endoscopy in children with primary intestinal lymphangiectasia. Gastrointest Endosc. 2006;64(4):649–650.

    Article  PubMed  Google Scholar 

  38. Musumeci ML, Nasca MR, De Pasquale R, et al. Cutaneous manifestations and massive genital involvement in Hennekam syndrome. Pediatr Dermatol. 2006;23(3):239–242.

    Article  PubMed  Google Scholar 

  39. Sethuraman G, Malhotra AK, Khaitan BK, et al. Familial pachydermoperiostosis in association with protein-losing enteropathy. Clin Exp Dermatol. 2006;31(4):531–534.

    CAS  Article  PubMed  Google Scholar 

  40. Chamouard P, Nehme-Schuster H, Simler JM, et al. Videocapsule endoscopy is useful for the diagnosis of intestinal lymphangiectasia. Dig Liver Dis. 2006;38(9):699–703.

    CAS  Article  PubMed  Google Scholar 

  41. Laharie D, Degenne V, Laharie H, et al. Remission of protein-losing enteropathy after nodal lymphoma treatment in a patient with primary intestinal lymphangiectasia. Eur J Gastroenterol Hepatol. 2005;17(12):1417–1419.

    Article  PubMed  Google Scholar 

  42. Koo NH, Lee HJ, Jung JW, et al. Intestinal lymphangiectasia: a response to medium-chain triglyceride formula. Acta Paediatr. 2005;94(7):982–983.

    Article  PubMed  Google Scholar 

  43. Goktan C, Pekindil G, Orguc S, et al. Bilateral breast edema in intestinal lymphangiectasia. Breast J. 2005;11(5):360.

    Article  PubMed  Google Scholar 

  44. Arrow P. Enamel hypoplasia of the primary dentition in a 4-year-old with intestinal lymphangiectasia. Int J Paediatr Dent. 2005;15(5):380–384.

    CAS  Article  PubMed  Google Scholar 

  45. Citak C, Karadeniz C, Dalgic B, et al. Intestinal lymphangiectasia as a first manifestation of neuroblastoma. Pediatr Blood Cancer. 2006;46(1):105–107.

    Article  PubMed  Google Scholar 

  46. Cammarota G, Cianci R, Gasbarrini G. High-resolution magnifying video endoscopy in primary intestinal lymphangiectasia: a new role for endoscopy? Endoscopy. 2005;37(6):607.

    CAS  Article  PubMed  Google Scholar 

  47. Bonioli E, Hennekam RC, Spena G, et al. Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia. Am J Med Genet A Part A. 2005;132A(2):202–205.

    Article  Google Scholar 

  48. Lynn J, Knight AK, Kamoun M, et al. A 55-year-old man with hypogammaglobulinemia, lymphopenia, and unrelenting cutaneous warts. J Allergy Clin Immunol. 2004;114(2):409–414.

    Article  PubMed  Google Scholar 

  49. Chen CP, Chao Y, Li CP, et al. Surgical resection of duodenal lymphangiectasia: a case report. World J Gastroenterol. 2003;9(12):2880–2882.

    PubMed  Google Scholar 

  50. Hallevy C, Sperber AD, Almog Y. Group G streptococcal empyema complicating primary intestinal lymphangiectasia. J Clin Gastroenterol. 2003;37(3):270.

    Article  PubMed  Google Scholar 

  51. Connor FL, Angelides S, Gibson M, et al. Successful resection of localized intestinal lymphangiectasia post-Fontan: role of (99m)technetium-dextran scintigraphy. Pediatrics. 2003;112(3 Pt 1):e242–e247.

    Article  PubMed  Google Scholar 

  52. Mazzie JP, Maslin PI, Moy L, et al. Congenital intestinal lymphangiectasia: CT demonstration in a young child. Clin Imaging. 2003;27(5):330–332.

    Article  PubMed  Google Scholar 

  53. Klingenberg RD, Homann N, Ludwig D. Type I intestinal lymphangiectasia treated successfully with slow-release octreotide. Dig Dis Sci. 2003;48(8):1506–1509.

    CAS  Article  PubMed  Google Scholar 

  54. Zelmanovitz F, Ricardo Masiero P, Leao Spiro B. Unusual excretion of Tc-99m MDP in regional intestinal lymphangiectasia. Clin Nucl Med. 2003;28(6):509–510.

    Article  PubMed  Google Scholar 

  55. Bellini C, Mazzella M, Arioni C, et al. Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. Am J Med Genet A Part A. 2003;120A(1):92–96.

    Article  Google Scholar 

  56. Holzknecht N, Helmberger T, Beuers U, et al. Cross-sectional imaging findings in congenital intestinal lymphangiectasia. J Comput Assist Tomogr. 2002;26(4):526–528.

    Article  PubMed  Google Scholar 

  57. Forzano F, Faravelli F, Loy A, et al. Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. Am J Med Genet. 2002;111(1):68–70.

    CAS  Article  PubMed  Google Scholar 

  58. MacLean JE, Cohen E, Weinstein M. Primary intestinal and thoracic lymphangiectasia: a response to antiplasmin therapy. Pediatrics. 2002;109(6):1177–1180.

    Article  PubMed  Google Scholar 

  59. Karg E, Bereczki C, Kovacs J, et al. Primary lymphoedema associated with xanthomatosis, vaginal lymphorrhoea and intestinal lymphangiectasia. Br J Dermatol. 2002;146(1):134–137.

    CAS  Article  PubMed  Google Scholar 

  60. Beck NS, Kang IS, Suh YL. Protracted diarrhea: results of the five-year survey in a tertiary hospital in Korea. J Korean Med Sci. 2001;16(6):736–741.

    CAS  PubMed  Google Scholar 

  61. Bellini C, Bonioli E, Josso N, et al. Persistence of Mullerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome. Am J Med Genet. 2001;104(1):69–74.

    CAS  Article  PubMed  Google Scholar 

  62. van Haelst MM, Hoogeboom J, Galjaard RJ, et al. Lymphangiectasia with persistent Mullerian derivatives: confirmation of autosomal recessive Urioste syndrome. Am J Med Genet. 2001;104(1):65–68.

    Article  PubMed  Google Scholar 

  63. Uguralp S, Mutus M, Kutlu O, et al. Primary intestinal lymphangiectasia: a rare disease in the differential diagnosis of acute abdomen. J Pediatr Gastroenterol Nutr. 2001;33(4):508–510.

    CAS  Article  PubMed  Google Scholar 

  64. So Y, Chung JK, Seo JK, et al. Different patterns of lymphoscintigraphic findings in patients with intestinal lymphangiectasia. Nucl Med Commun. 2001;22(11):1249–1254.

    CAS  Article  PubMed  Google Scholar 

  65. Salvia G, Cascioli CF, Ciccimarra F, et al. A case of protein-losing enteropathy caused by intestinal lymphangiectasia in a preterm infant. Pediatrics. 2001;107(2):416–417.

    CAS  Article  PubMed  Google Scholar 

  66. Tsang HY, Cheung YF, Leung MP, et al. Cutaneous oozing of lymphatic fluid after interventional cardiac catheterization in a patient with Noonan syndrome. Catheter Cardiovasc Interv. 2000;51(4):441–443.

    CAS  Article  PubMed  Google Scholar 

  67. Scarcella A, De Lucia A, Pasquariello MB, et al. Early death in two sisters with Hennekam syndrome. Am J Med Genet. 2000;93(3):181–183.

    CAS  Article  PubMed  Google Scholar 

  68. Bouhnik Y, Etienney I, Nemeth J, et al. Very late onset small intestinal B cell lymphoma associated with primary intestinal lymphangiectasia and diffuse cutaneous warts. Gut. 2000;47(2):296–300.

    CAS  Article  PubMed  Google Scholar 

  69. Lee WS, Boey CC. Chronic diarrhoea in infants and young children: causes, clinical features and outcome. J Paediatr Child Health. 1999;35(3):260–263.

    CAS  Article  PubMed  Google Scholar 

  70. Guma J, Rubio J, Masip C, et al. Aggressive bowel lymphoma in a patient with intestinal lymphangiectasia and widespread viral warts. Ann Oncol. 1998;9(12):1355–1356.

    CAS  Article  PubMed  Google Scholar 

  71. Erkan T, Kutlu T, Cullu F, et al. Hennekam syndrome. Arch Pediatr. 1998;5(12):1344–1346.

    CAS  Article  PubMed  Google Scholar 

  72. Lee WS, Boey CC, Goh AY, et al. Intestinal lymphangiectasia—a report of three Chinese children in Malaysia. Singap Med J. 1998;39(9):418–421.

    CAS  Google Scholar 

  73. Maconi G, Molteni P, Manzionna G, et al. Ultrasonographic features of long-standing primary intestinal lymphangiectasia. Eur J Ultrasound. 1998;7(3):195–198.

    CAS  Article  PubMed  Google Scholar 

  74. Persic M, Browse NL, Prpic I. Intestinal lymphangiectasia and protein losing enteropathy responding to small bowel restriction. Arch Dis Child. 1998;78(2):194.

    CAS  Article  PubMed  Google Scholar 

  75. Diaz N, Khoury A, Taboada M, et al. Primary intestinal lymphangiectasia in children. Report of 3 cases. GEN. 1995;49(4):307–309.

    CAS  Google Scholar 

  76. Young MC, Harfi H, Sabbah R. A human T cell lymphoma secreting an immunoglobulin E specific helper function. J Clin Invest. 1985;75:1977–1982.

    CAS  Article  PubMed  Google Scholar 

  77. Miyake S, Yoshizawa Y, Ohkouchi Y. Non-Hodgkin’s lymphoma with pulmonary infiltrates mimicking miliary tuberculosis. Intern Med. 1997;36:420–423.

    CAS  Article  PubMed  Google Scholar 

  78. Koutsonikolis A, Day N, Chamizo W. Asymptomatic lymphoma associated with elevation of Immunoglobulin E. Ann Allergy Asthma Immunol. 1997;78:27–28.

    CAS  Article  PubMed  Google Scholar 

  79. Ellis AK, Waserman S. Hodgkin’s lymphoma presenting with markedly elevated IgE: a case report. J Allergy Clin Immunol. 2009;5(1):12.

    Google Scholar 

  80. Filik L, Oguz P, Koksal A, et al. A case with intestinal lymphangiectasia successfully treated with slow-release octreotide. Dig Liver Dis. 2004;36(10):687–690.

    CAS  Article  PubMed  Google Scholar 

Download references

Author information

Affiliations

  1. Clinical Nutrition Center, School of Medicine, Xin Hua Hospital, Shanghai Jiao Tong University, Shanghai, China

    Jie Wen, Qingya Tang, Jiang Wu, Ying Wang & Wei Cai

  2. Department of Pediatric Surgery, School of Medicine, Xin Hua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University, Kong-Jiang Road, 200092, Yang-Pu District, Shanghai, China

    Wei Cai

Authors
  1. Jie Wen
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Qingya Tang
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Jiang Wu
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ying Wang
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Wei Cai
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Wei Cai.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Wen, J., Tang, Q., Wu, J. et al. Primary Intestinal Lymphangiectasia: Four Case Reports and a Review of the Literature. Dig Dis Sci 55, 3466–3472 (2010). https://doi.org/10.1007/s10620-010-1161-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10620-010-1161-1

Keywords

  • Intestinal lymphangiectasia
  • Diet therapy
  • Endoscopy
  • Immunoglobulin E
  • Lymphoma