National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Primary intestinal lymphangiectasia


Other Names:
Waldmann's disease; Primary intestinal lymphangiectasis; Familial Waldmann's disease (type); Waldmann's disease; Primary intestinal lymphangiectasis; Familial Waldmann's disease (type); Waldmann disease See More
Categories:
This disease is grouped under:
Primary intestinal lymphangiectasia is a digestive disorder in which the lymph vessels supplying the lining of the small intestine are enlarged. The cause of the condition is still unknown. The signs and symptoms include swelling of the legs and abdominal discomfort, loss of lymphatic fluid into the gastrointestinal tract, protein-losing enteropathy, too little albumin in the blood, reduced levels of antibodies, and immunodeficiency. Treatment involves a special long-term diet.[1]
Last updated: 10/6/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the lymphatic system 0100763
Decreased circulating antibody level 0004313
Hypoalbuminemia
Low blood albumin
0003073
Hypoproteinemia
Decreased protein levels in blood
0003075
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Lymphopenia
Decreased blood lymphocyte number
Low lymphocyte number
[ more ] 		0001888
Pedal edema
Fluid accumulation in lower limbs
Lower leg swelling
[ more ] 		0010741
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Diarrhea
Watery stool
0002014
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Fatigue
Tired
Tiredness
[ more ] 		0012378
Immunodeficiency
Decreased immune function
0002721
Malabsorption
Intestinal malabsorption
0002024
Nausea and vomiting 0002017
Weight loss 0001824
5%-29% of people have these symptoms
B-cell lymphoma 0012191
Chylous ascites 0012281
Gangrene
Death of body tissue due to lack of blood flow or infection
0100758
Hydrops fetalis 0001789
Hypocalcemia
Low blood calcium levels
0002901
Ileus 0002595
Iron deficiency anemia 0001891
Meningitis 0001287
Osteoporosis 0000939
Pericardial effusion
Fluid around heart
0001698
Pleural effusion
Fluid around lungs
0002202
Seizure 0001250
Thickened skin
Thick skin
0001072
Vaginal lymphocele 0100676
Verrucae
Warts
0200043
Percent of people who have these symptoms is not available through HPO
Abnormal hair morphology
Abnormality of the hair
Hair abnormality
[ more ] 		0001595
Autosomal dominant inheritance 0000006
Decreased circulating IgG level 0004315
Edema
Fluid retention
Water retention
[ more ] 		0000969
Intestinal lymphangiectasia 0002593
Neonatal hypoproteinemia 0008360
Prominent floating ribs 0006641
Stillbirth
Stillborn
0003826
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Last updated: 7/1/2020
Unfortunately, there is no cure for primary intestinal lymphangiectasia (PIL). It is typically managed through dietary restrictions, including a low-fat diet and supplementation of a specific type of fat more easily absorbed by individuals with this condition (medium chain triglycerides). These restrictions usually continue throughout life. Periodic intravenous (IV) infusion of a protein called albumin may be useful in treating swelling of the lower limbs and/or buildup of excess bodily fluids. Use of certain hormones, such as octreotide, may be useful in treating individuals not responding to dietary changes. Surgery is usually not needed unless the disease is limited to one area of the intestine.[2][3]
Last updated: 3/8/2017
Generally, the earlier the onset of primary intestinal lymphangiectasia, the more severe the disease. If the disease is apparent in the newborn period or the first few months of life, symptoms may include massive edema, diarrhea, malabsorption, and infection.[1] Still, infants with this disease can (and have) survived into adulthood. Because the severity of symptoms in infants can vary, the infants healthcare providers are best able to provide specific information regarding a child's prognosis.
Last updated: 10/6/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The main differential diagnosis includes enteropathy-associated T-cell lymphoma, Whipple disease, Crohn disease, sarcoidosis, tuberculosis (with extrapulmonary involvement), systemic sclerosis, and constrictive pericarditis.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Primary intestinal lymphangiectasia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Primary intestinal lymphangiectasia:
    The International Lymphatic Disease and Lymphedema Patient Registry & Biorepository
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Primary intestinal lymphangiectasia. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Vignes S. Primary Intestinal Lymphangiectasia. NORD. 2016; https://rarediseases.org/rare-diseases/primary-intestinal-lymphangiectasia/.
  2. Vignes S. Primary intestinal lymphangiectasia. Orphanet. June 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90362.
  3. Nazer H, Nazer D. Intestinal Lymphangiectasia. Medscape. December 19, 2014; http://emedicine.medscape.com/article/179571.