Living with Congenital pulmonary lymphangiectasia
A rare lung condition present from birth in which lymph vessels in the lungs are too wide, often causing breathing trouble.
Understanding Congenital pulmonary lymphangiectasia
Lymph vessels drain fluid from the body and help the immune system. In CPL it often shows up in the first few days of life as breathing failure, sometimes with a bluish skin tint (cyanosis). It can be noticed before birth with fluid buildup (hydrops fetalis) or fluid around the lungs (pleural effusion). CPL can be primary, alone or part of a wider lymph condition, or secondary to heart problems or lymph blockage.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble breathing (respiratory distress)
- Bluish skin color (cyanosis)
- Fluid around the lungs (pleural effusion)
- Cough
- Fluid in the belly (ascites)
- Slow growth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and lung and breathing specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Children's Interstitial Lung Disease Foundation and Lymphatic Education and Research Network may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: Children's Interstitial Lung Disease Foundation, Lymphatic Education and Research Network
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Interstitial Lung Disease Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says the underlying cause is unknown. It can be primary or secondary to another condition, and some cases are linked to genetic disorders. GARD lists autosomal recessive inheritance.
Also known as: congenital pulmonary lymphangiectasis; diffuse pulmonary lymphangiomatosis; pulmonary cystic lymphangiectasis; pulmonary lymphangiomatosis
Patient organizations
- Children's Interstitial Lung Disease FoundationCongenital pulmonary lymphangiectasia · United States
- Lymphatic Education and Research NetworkCongenital pulmonary lymphangiectasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital pulmonary lymphangiectasia.
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