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Last updated: March 23, 2020
Years published: 1986, 1988, 1990, 1993, 2000, 2010, 2013, 2016, 2020
NORD gratefully acknowledges Stรฉphane Vignes, MD, Department of Lymphology, Centre de Rรฉfรฉrence des Maladies Vasculaires Rares, Hรดpital Cognacq-Jay, Paris, for assistance in the preparation of this report.
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 (edema) 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, eventually face, abdomen and external genitalia due to fluid retention (edema). Fluid is retained because the blood protein (albumin) 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 called exudative enteropathy) 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.
PIL is a rare disease that affects males and females in equal numbers. The prevalence is unknown.
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. Intestinal lymph oozing may be confirmed by the increased clearance of alpha-1 antitrypsin in the stools.
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. The need for dietary control appears to be permanent, because clinical and biochemical findings reappear after low-fat diet interruption. 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. In some patients, octreotide is prescribed in addition to dietary modifications. Compression stocking can be used to stabilize in associated lower limb lymphedema.
Information regarding current clinical trials can be found at www.clinicaltrials.gov All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll Free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, in the main, contact:
www.centerwatch.com
For more information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
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. Physiciansโ 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. 1999;24:210-11.
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. https://www.ojrd.com/content/3/1/5 Accessed Dec 16, 2019.
McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University. Last Update: 05/03/2017. Available at: https://omim.org/entry/152800 Accessed Dec 16, 2019.
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NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.
Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORDโs mission.
Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.
Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
View report
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