Primary Intestinal Lymphangiectasia

Primary Intestinal Lymphangiectasia

National Organization for Rare Disorders, Inc.

Important

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.

Synonyms

  • 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.

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.

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/

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.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

31 Center Drive, MSC 2560

Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Internet: http://www2.niddk.nih.gov/



Lymphatic Research Foundation

40 Garvies Point Road

Glen Cove, NY 11542

USA

Tel: (516)625-9675

Fax: (516)625-9410

Email: lrf@lymphaticresearch.org

Internet: http://www.lymphaticresearch.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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