Living with Congenital lobar emphysema
A rare lung condition in which air gets trapped and overfills part of the lung, most often noticed in babies.
Understanding Congenital lobar emphysema
It is most often found in newborns or young infants, but some cases are not noticed until adulthood. It can cause trouble breathing in infancy, an enlarged chest, and a bluish skin color. It can be so mild that it never becomes noticeable. In about 15% of cases it is severe enough to cause heart problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble breathing (respiratory distress)
- Bluish skin color (cyanosis)
- Wheezing
- Fast heart rate (tachycardia)
- Emphysema (overinflated lung)
- Shift of the chest's center structures (mediastinal shift)
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
Fetal Health Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: Fetal Health Foundation
- 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 Fetal Health 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
Some cases may be caused by changes in genes and passed down in an autosomal dominant way, meaning one changed copy of a gene can be enough. Other cases happen for no apparent reason.
Also known as: cle; cle - congenital lobar emphysema; congenital emphysema; congenital lobar hyperinflation; congenital lobar overinflation; emphysema, congenital lobar
Patient organizations
- Fetal Health FoundationCongenital lobar emphysema · United States
- American Lung AssociationCongenital lobar emphysema · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital lobar emphysema.
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