Rare Endocrinology News

Disease Profile

Primary intestinal lymphangiectasia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

All ages

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ICD-10

I89.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Waldmann's disease; Primary intestinal lymphangiectasis; Familial Waldmann's disease (type);

Categories

Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases

Summary

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]

Symptoms

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.

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
Bcell 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

Treatment

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]

Organizations

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

    Learn more

    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.

          References

          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; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90362.
          3. Nazer H, Nazer D. Intestinal Lymphangiectasia. Medscape. December 19, 2014; https://emedicine.medscape.com/article/179571.

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