Primary Intestinal Lymphangiectasia

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Primary Intestinal Lymphangiectasia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • Waldmann disease
  • PIL

Disorder Subdivisions

  • None

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.


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.


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.

Standard Therapies


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 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 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


For information about clinical trials sponsored by private sources, contact:

For information about clinical trials conducted in Europe, contact:



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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.

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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.

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Vignes S and Bellanger J. Primary Intestinal Lymphangiectasia. Orphanet Journal of Rare Diseases. 2008;3:5. Accessed: February 4, 2013.

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