Congenital pulmonary lymphangiectasia

Title

Other Names:

CPL; Lymphangiomatosis pulmonary; Pulmonary cystic lymphangiectasis; CPL; Lymphangiomatosis pulmonary; Pulmonary cystic lymphangiectasis; Lymphangiectasia pulmonary congenital See More

Categories:

Blood Diseases; Congenital and Genetic Diseases; Lung Diseases

Summary Summary

Congenital pulmonary lymphangiectasia (CPL) is a rare developmental disorder that affects the lungs. It is present from birth and usually becomes apparent in the first few days of life with respiratory failure.^[1] It sometimes is apparent before birth with non-immune hydrops fetalis and pleural effusion (fluid in the lung).^[1] Infants with CPL often develop severe, potentially life-threatening, respiratory distress shortly after birth. They may also develop cyanosis caused by low oxygen levels in the blood, which causes the skin to have a bluish tint. Symptoms are due to abnormally wide (dilated) lymphatic vessels within the lungs.^[1]^[2] These vessels drain a fluid called lymph from different areas of the body. They are an important part of the lymphatic system, which helps the immune system protect the body against infection and disease.^[2]

The underlying cause of CPL is unknown. It can occur as a primary or secondary disorder (due to another underlying condition). Primary CPL occurs as an isolated defect or as part of a generalized form of lymphatic disease affecting the whole body. Secondary CPL can occur due to a variety of heart abnormalities or lymphatic obstruction.^[2] Some cases of CPL have been associated with genetic disorders.^[2]^[1]

Treatment aims to relieve the symptoms of the disorder and may include CPAP, intubation, and/or fluid drainage. While much of the older literature suggests a very high mortality rate, recent studies suggest that CPL does not have as poor an outlook.^[2]

Last updated: 1/3/2017

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Cyanosis	Very frequent (present in 80%-99% of cases)
Pleural effusion	Very frequent (present in 80%-99% of cases)
Respiratory distress	Very frequent (present in 80%-99% of cases)
Ascites	Frequent (present in 30%-79% of cases)
Chronic obstructive pulmonary disease	Frequent (present in 30%-79% of cases)
Chylopericardium	Frequent (present in 30%-79% of cases)
Congestive heart failure	Frequent (present in 30%-79% of cases)
Cough	Frequent (present in 30%-79% of cases)
Gastroesophageal reflux	Frequent (present in 30%-79% of cases)
Growth delay	Frequent (present in 30%-79% of cases)
Hydrops fetalis	Frequent (present in 30%-79% of cases)
Hepatomegaly	Occasional (present in 5%-29% of cases)
Pulmonary arterial hypertension	Occasional (present in 5%-29% of cases)
Pulmonic stenosis	Occasional (present in 5%-29% of cases)
Splenomegaly	Occasional (present in 5%-29% of cases)
Tricuspid regurgitation	Occasional (present in 5%-29% of cases)
Autosomal recessive inheritance	-
Bronchodysplasia	-
Chylothorax	-
Chylous ascites	-
Edema of the lower limbs	-
Flat face	-
Hypertelorism	-
Malar flattening	-
Mild postnatal growth retardation	-
Nonimmune hydrops fetalis	-
Palpebral edema	-
Pectus excavatum	-
Polyhydramnios	-
Pulmonary lymphangiectasia	-
Recurrent respiratory infections	-
Variable expressivity	-
Wide nasal bridge	-

Last updated: 9/1/2017

Prognosis Prognosis

Conflicting data have been reported regarding the outcome for children with congenital pulmonary lymphangiectasia (CPL).^[3] The prognosis has previously been reported to be very poor, with mortality at about 100% before the 1990s.^[4]^[5] However, more recent reports suggest that CPL is not a uniformly fatal condition, and that in survivors, the condition improves. This might be due to advances in modern intensive care therapy and also to the fact that severity can vary among affected children.^[4] It has been suggested that children with generalized lymphangiectasia who have pulmonary involvement may have less severe CPL and a better prognosis; having a primary developmental defect of the pulmonary lymphatic vessels tends to be associated with a higher mortality.^[6] Those with CPL who do survive infancy often continue to have medical problems that are characteristic of chronic lung disease. Gastroesophageal reflux and poor growth are also not uncommon during the first year of life, especially between six and twelve months of age, and are closely related to chronic lung disease.^[3]

Last updated: 1/3/2017

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Research Research

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

The Lymphatic Research Foundation is establishing a National Patient Registry Tissue/Cell Bank for Lymphatic Diseases which will provide researchers with fresh tissue, cell samples, and clinical data to study the development and functioning of the lymphatic system in order to develop improved treatments and find a cure for lymphatic diseases, lymphedema, and related disorders. Click on the link above to learn more about how you can participate in the Patient Registry.

Organizations 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

Lymphangiomatosis & Gorham's Disease Alliance
19919 Villa Lante Place
Boca Raton, FL 33434
Toll-free: (844) 588-5771
Telephone: 561-441-9766
E-mail: info@lgdalliance.org
Website: http://www.lgdalliance.org/
Lymphatic Education and Research Network
261 Madison Avenue
New York, NY 10016
Telephone: 516-625-9675
Fax: 516-625-9410
E-mail: info@lymphaticnetwork.org
Website: http://www.lymphaticnetwork.org
National Lymphedema Network (NLN)
2288 Fulton Street
Suite 307
Berkeley, CA 94704
Toll-free: 800-541-3259
E-mail: nln@lymphnet.org
Website: http://www.lymphnet.org

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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

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

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 Congenital pulmonary lymphangiectasia. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

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References References

Toru HS, Sanhal CY, Yilmaz GT, Ozbudak IH, Mendilcioglu I, Ozbilim G. Rare congenital pulmonary malformation with diagnostic challenging: congenital pulmonary lymphangiectasia, report of four autopsy cases and review of literature. J Matern Fetal Neonatal Med. August, 2015; 28(12):1457-1460.
Bonioli E, Bellini C. Congenital Pulmonary Lymphangiectasia. National Organization for Rare Disorders (NORD). 2012; https://rarediseases.org/rare-diseases/congenital-pulmonary-lymphangiectasia/.
Carlo Bellini, Francesco Boccardo, Corradino Campisi, and Eugenio Bonioli. Congenital pulmonary lymphangiectasia. Orphanet J Rare Dis. 2006; 1:43:
Reiterer F, Grossauer K, Pfleger A, Häusler M, Resch B, Eber E, Popper H, Urlesberger B. Severe primary pulmonary lymphangiectasis in a premature infant: management and follow up to early childhood. Pediatr Int. 2015; 57(1):166-169.
Gray M, Kovatis KZ, Stuart T, Enlow E, Itkin M, Keller MS, French HM. Treatment of congenital pulmonary lymphangiectasia using ethiodized oil lymphangiography. J Perinatol. September, 2014; 34(9):720-722.
Hwang JH, Kim JH, Hwang JJ, Kim KS, Kim SY. Pneumonectomy case in a newborn with congenital pulmonary lymphangiectasia. J Korean Med Sci. April, 2014; 29(4):609-613.