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

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
Cyanosis	Blue discoloration of the skin	0000961
Pleural effusion		0002202
Respiratory distress	Breathing difficulties Difficulty breathing [ more ]	0002098
30%-79% of people have these symptoms
Ascites	Accumulation of fluid in the abdomen	0001541
Chronic obstructive pulmonary disease		0006510
Chylopericardium		0011852
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Cough	Coughing	0012735
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
Hydrops fetalis		0001789
5%-29% of people have these symptoms
Hepatomegaly	Enlarged liver	0002240
Pulmonary arterial hypertension	Increased blood pressure in blood vessels of lungs	0002092
Pulmonic stenosis	Narrowing of pulmonic valve	0001642
Splenomegaly	Increased spleen size	0001744
Tricuspid regurgitation		0005180
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Bronchodysplasia		0006533
Chylothorax		0010310
Chylous ascites		0012281
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Edema of the lower limbs	Fluid accumulation in lower limbs	0010741
Facial edema	Facial puffiness Facial swelling [ more ]	0000282
Flat face	Flat facial shape	0012368
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Malar flattening	Zygomatic flattening	0000272
Mild postnatal growth retardation		0001530
Nonimmune hydrops fetalis		0001790
Palpebral edema	Fullness of eyelids Puffy eyelids Puffy lids Swelling of eyelids [ more ]	0100540
Pectus excavatum	Funnel chest	0000767
Polyhydramnios	High levels of amniotic fluid	0001561
Pulmonary lymphangiectasia		0006521
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Variable expressivity		0003828
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 12/1/2018

Do you have updated information on this disease? We want to hear from you.

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

Find a Specialist Find a Specialist

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

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 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.

Related Diseases Related Diseases

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
During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Visit the Orphanet disease page for more information.

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 Education & Research Network has established a The International Lymphatic Disease and Lymphedema Patient Registry & Tissue Bank which will provide researchers and clinicians with blood 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 & Tissue Bank.

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: 1-844-588-5771
Telephone: +1-561-441-9766
E-mail: info@lgdalliance.org
Website: https://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)
411 Lafayette Street, 6th Floor
New York, NY 10003
Toll-free: +1- 646-722-7410
E-mail: nln@lymphnet.org
Website: http://www.lymphnet.org

Do you know of an organization? We want to hear from you.

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.

GARD Answers GARD Answers

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. Submit a new question

What should be the diet for an affected infant? What is the long term outcome for affected children? See answer

Have a question? Contact a GARD Information Specialist.

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.