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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:

Synonyms and keywords: PIL

Overview

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".[1]
  • Assessment using radio-labeled 131I-albumin resulted in low levels in those patients. In addition, small intestinal biopsies were examined under a microscope revealing different degrees of lymphatic vessel dilatation.[2]

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 include 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[3]
  • Inflammatory bowel disease,[4] *Intestinal lymphoma,[5]
  • Constrictive pericarditis[6]
  • Sarcoidosis[7]
  • Systemic sclerosis[8]
  • Whipple disease[9]
  • Radiation and/or chemotherapy with retroperitoneal fibrosis[10]
  • HIV-related enteropathy[11]
  • Celiac disease

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
  • Malabsorption syndrome[12]
  • Fatigue
  • Abdominal pain
  • Abdominal mass[13]
  • Immunodeficiency
  • Vitamin D deficiency Leading to osteomalacia and convulsion
  • Iron deficiency anemia
  • Mechanical ileus[14]
  • Chylous reflux into skin[15]
  • Recurrent GI bleeding[16]
  • Children have growth retardation

Diagnosis

PIL is diagnosed by biopsy revealing dilated intestinal lymphatics.

Other laboratory findings in PIL include:

  • Low albumin level
  • Low immunoglobulin IgM, IgA and IgG levels
  • CBC shows lymphopenia
  • Elevated 24-hour α1-antitrypsin clearance in stool, which is an indication of degree of protein loss and disease severity Contrast lymphangiography

Treatment

There is no definitive treatment for PIL; the mainstay of therapy is a low fat high protein diet with medium-chain triglyceride oral supplementation and supplemental calcium and vitamins.

Other reported therapeutic options include:

- Tranexamic acid is used to increase immunoglobulins and lymphocyte count[17]

- Surgery (segmental small bowel resection) for localized lesions[18]

Some controversial therapeutic options include: steroids[19] and octreotide[20]

Complications

  • Complications that can develop in PIL as a result of immunodeficiency are:
    • Malignant transformation (lymphoma)
    • Skin warts
    • Infections

Prognosis

PIL is associated with significant morbidity and requires adherence to dietary modification and oral supplements; otherwise. it would be associated with poor outcomes and low quality of life. It can be fatal in some cases if anasarca or malignancy develops.

References

  1. ↑ WALDMANN TA, STEINFELD JL, DUTCHER TF, DAVIDSON JD, GORDON RS (1961). "The role of the gastrointestinal system in "idiopathic hypoproteinemia"". Gastroenterology. 41: 197–207. PMID 13782654.
  2. ↑ Vignes S, Bellanger J (2008). "Primary intestinal lymphangiectasia (Waldmann's disease)". Orphanet J Rare Dis. 3: 5. doi:10.1186/1750-1172-3-5. PMC 2288596. PMID 18294365.
  3. ↑ Ploddi A, Atisook K, Hargrove NS (1988). "Intestinal lymphangiectasia in intraabdominal tuberculosis". J Med Assoc Thai. 71 (9): 518–23. PMID 3249186.
  4. ↑ 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.
  5. ↑ SUM PT, HOFFMAN MM, WEBSTER DR (1964). "PROTEIN-LOSING GASTROENTEROPATHY IN PATIENTS WITH GASTROINTESTINAL CANCER". Can J Surg. 7: 1–5. PMID 14103417.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ van Tilburg AJ, van Blankenstein M, Verschoor L (1988). "Intestinal lymphangiectasia in systemic sclerosis". Am J Gastroenterol. 83 (12): 1418–9. PMID 3195550.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ 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.
  12. ↑ 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.
  13. ↑ 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.
  14. ↑ 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.
  15. ↑ 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.
  16. ↑ 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.
  17. ↑ MacLean JE, Cohen E, Weinstein M (2002). "Primary intestinal and thoracic lymphangiectasia: a response to antiplasmin therapy". Pediatrics. 109 (6): 1177–80. doi:10.1542/peds.109.6.1177. PMID 12042562.
  18. ↑ Chen CP, Chao Y, Li CP, Lo WC, Wu CW, Tsay SH; et al. (2003). "Surgical resection of duodenal lymphangiectasia: a case report". World J Gastroenterol. 9 (12): 2880–2. doi:10.3748/wjg.v9.i12.2880. PMC 4612079. PMID 14669360.
  19. ↑ Edworthy SM, Fritzler MJ, Kelly JK, McHattie JD, Shaffer EA (1990). "Protein-losing enteropathy in systemic lupus erythematosus associated with intestinal lymphangiectasia". Am J Gastroenterol. 85 (10): 1398–402. PMID 2220736.
  20. ↑ Klingenberg RD, Homann N, Ludwig D (2003). "Type I intestinal lymphangiectasia treated successfully with slow-release octreotide". Dig Dis Sci. 48 (8): 1506–9. doi:10.1023/a:1024707605493. PMID 12924644.
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