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Primary Intestinal Lymphangiectasia

NORD is very grateful to Stéphane Vignes, MD, Department of Lymphology, Centre de Référence des Maladies Vasculaires Rares, Hôpital Cognacq-Jay, Paris, for assistance in the preparation of this report.

Synonyms of Primary Intestinal Lymphangiectasia

  • PIL
  • Waldmann disease

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Primary intestinal lymphangiectasia (PIL) is a rare digestive disorder characterized by abnormally enlarged (dilatated) lymph vessels supplying the lining of the small intestine. The main symptoms are swelling of the limbs and abdominal discomfort. The disorder is usually diagnosed before three years of age but is sometimes diagnosed later in life.

Symptoms

The most obvious sign of the disorder is moderate to severe swelling in the lower limbs, face and external genitalia due to fluid retention (edema). Fluid is retained because the blood protein levels are low. Lymphedema may also be associated and not easy to differentiate from edema.

Abdominal pain and/or nausea, vomiting and diarrhea may also be present. Affected individuals may experience fatigue, weight loss, and an inability to gain weight in childhood. The blood lymphocyte count is usually low as are blood protein (albumin, globulins because protein in the lymph leaks into the intestine and the feces) and blood cholesterol levels (because cholesterol from food is not properly absorbed).

Swelling of the membrane surrounding the heart (pericarditis) and fluid in the chest (pleural effusion) or ascites (abdominal effusion) can occur. Extreme generalized swelling of the body (anasarca) can be a rare life threatening complication in children.

Causes

The cause of PIL is unknown. Multiple affected family members have been reported rarely.

Affected Populations

PIL is a rare disease that affects males and females in equal numbers. The prevalence is unknown.

Related Disorders

Symptoms of the following disorders can be similar to those of PIL and should be eliminated before confirming PIL diagnosis.

Whipple disease is a rare disease resulting from bacterial infection that leads to inadequate absorption of nutrients (malabsorption) from the intestine. It is believed to result from infection with bacteria known as Tropheryma whippelii. The infection usually involves the small intestine, but over time, the disease may affect various parts of the body, including the heart, lungs, brain, and eyes. (For more information on this disorder, choose "Whipple" as your search term in the Rare Disease Database.)

Crohn's disease is an inflammatory bowel disease characterized by severe, chronic inflammation of the intestinal wall or any portion of the gastrointestinal tract. The lower portion of the small intestine (ileum) and the rectum are most commonly affected by this disorder. Symptoms may include watery diarrhea, abdominal pain, fever, and weight loss. The symptoms of Crohn's disease can be difficult to manage and proper diagnosis is often delayed. The exact cause of Crohn's disease is unknown. (For more information on this disorder, choose "Crohn" as your search term in the Rare Disease Database.)

Sarcoidosis is characterized by the abnormal formation of inflammatory masses or nodules (granulomas) consisting of certain granular white blood cells (modified macrophages or epithelioid cells) in certain organs of the body. The granulomas that are formed are thought to alter the normal structure of and, potentially, the normal functions of, the affected organ(s), causing symptoms associated with the particular body system(s) in question. In individuals with sarcoidosis, such granuloma formation most commonly affects the lungs. However, in many cases, the upper respiratory system, lymph nodes, skin, and/or eyes may be involved. In addition, in some cases, other organs may be affected, including the liver, bone marrow, spleen, musculoskeletal system, heart, salivary glands, and/or nervous system (i.e., central or peripheral nervous system). (For more information on this disorder, choose "sarcoidosis" as your search term in the Rare Disease Database.)

Standard Therapies

Diagnosis
The diagnosis of PIL is made by viewing the intestine with a flexible scope (endoscope), removing tissue samples from several areas (biopsy) and examining these tissues for signs of abnormal dilation. This exam is rarely normal and videocapsule endoscopy may be useful when endoscopic findings are not contributive.

PIL may be suspected on a prenatal ultrasound if edema of lower limbs or generalized edema is noted.

Treatment
Treatment of PIL may include a strictly low-fat long-term diet supplemented by medium-chain triglycerides to supply essential fatty acids and nutrients associated with fat-soluble vitamin such as vitamin D (whole whey protein and maltodextrin). The administration of water pills (diuretics) may sometimes be helpful. Albumin infusion is sometimes proposed in patients with important serous effusion or uncomfortable lower limb edema. Very occasionally surgical removal of the diseased portion of the intestine may be beneficial if the damage is limited to a local area.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

Organizations related to Primary Intestinal Lymphangiectasia

References

TEXTBOOKS
Ballinger AB. Intestinal Lymphangiectasia. In: The NORD Guide to Rare Disorders, Philadelphia:Lippincott, Williams and Wilkins, 2003:346.

Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:301.

Berkow R., ed. The Merck Manual-Home Edition. Whitehouse Station, NJ: Merck Research Laboratories; 1997:538.

Larson DE. ed. Mayo Clinic Family Health Book. New York, NY: William Morrow and Company, Inc; 1996:774.

Behrman RE., ed. Nelson Textbook of Pediatrics, 15th ed. Philadelphia, PA: W.B. Saunders Company; 1996:1097.

Thoene JG., ed. Physicians’ Guide to Rare Diseases. Montvale, NJ: Dowden Publishing Company Inc; 1995:685.

Yamada T, et al., eds. Textbook of Gastroenterology. 2nd ed. Philadelphia, PA: J.B. Lippincott Company; 1995:834.

JOURNAL ARTICLES
Marie I, et al., Gelatinous transformation of the bone marrow: an uncommon manifestation of intestinal lymphangiectasia. Am J Med. 1999;107:99-100.

Zelmanovitz F., Location of regional intestinal lymphangiectasia using Tc-99m dextran lymphoscintigraphy. Clin Nucl Med. 199924:210-11.

Fuss IJ, et al., Intestinal lymphangiectasia, a disease characterized by selective loss of naive CD45RA+ lymphocytes into the gastrointestinal tract. Eur J Immunol. 1998;28:4275-85.

Rust C., Fibrotic entrapment of the small bowel in congenital intestinal lymphangiectasia. Am J Gastroenterol. 1998;93:1980-83.

Ballinger AB, et al., Octreotide in the treatment of intestinal lymphangiectasia. Eur J Gastroenterol Hepatol. 1998;10:699-702.

Maconi G, et al., Ultrasonographic features of long-standing primary intestinal lymphangiectasia. Eur J Ultrasound. 1998;7:195-98.

Persic M, et al., Intestinal lymphangiectasia and protein losing enteropathy responding to small bowel restriction. Arch Dis Child. 1998;78:194

INTERNET
Vignes S and Bellanger J. Primary Intestinal Lymphangiectasia. Orphanet Journal of Rare Diseases. 2008;3:5. http://www.ojrd.com/content/3/1/5 Accessed: February 4, 2013.

McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University. Available at: http://omim.org/entry/152800 Last Update:4/5/12. Accessed: February 4, 2013.

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Report last updated: 2013/02/07 00:00:00 GMT+0

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