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

Intestinal lymphangiectasia

Intestinal lymphangiectasia is a rare digestive disorder characterized by abnormally enlarged lymph vessels supplying the lining of the small intestine. Affected people may experience intermittent diarrhea, nausea, vomiting, swelling of the limbs and abdominal discomfort. Intestinal lymphangiectasia can be congenital (also called primary intestinal lymphangiectasia or Waldmann disease) in which case it affects children and young adults (mean age of onset, 11 years); it can also be associated with a variety of other conditions and affect older adults. Treatment generally involves control of symptoms with dietary and/or behavioral modifications and the use of certain medications.[1][2]
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
Diarrhea
Watery stool
0002014
Lymphopenia
Decreased blood lymphocyte number
Low lymphocyte number
[ more ] 		0001888
Malabsorption
Intestinal malabsorption
0002024
Pedal edema
Fluid accumulation in lower limbs
Lower leg swelling
[ more ] 		0010741
30%-79% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters
[ more ] 		0008066
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] 		0001510
Hypocalcemia
Low blood calcium levels
0002901
Immunologic hypersensitivity 0100326
Prominent floating ribs 0006641
Skin ulcer
Open skin sore
0200042
5%-29% of people have these symptoms
Ascites
Accumulation of fluid in the abdomen
0001541
Constrictive pericarditis 0002563
Neoplasm 0002664
Pleural effusion
Fluid around lungs
0002202
Thickened skin
Thick skin
0001072
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
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Last updated: 7/1/2020

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

  • The Merck Manual provides information on this condition for patients and caregivers. 
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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 Merck Manual for health care professionals provides information on Intestinal lymphangiectasia.
  • 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.
  • 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 Intestinal lymphangiectasia. Click on the link to view a sample search on this topic.

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  1. Nazer H. Intestinal Lymphangiectasia. Medscape Reference. December 19, 2014; http://emedicine.medscape.com/article/179571-overview. Accessed 10/6/2015.
  2. Vladan Milovic, MD; Richard J Grand, MD. Protein-losing gastroenteropathy. UpToDate. September 2015; Accessed 10/6/2015.