Living with Hereditary pulmonary alveolar proteinosis
A rare lung condition present from birth in which a fat-and-protein substance builds up in the air sacs and makes breathing hard.
Understanding Hereditary pulmonary alveolar proteinosis
It is a form of breathing failure that is present from birth, though it can show at a variety of ages. The buildup makes breathing difficult. Diagnosis is based on symptoms, imaging, and genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble breathing
- Low blood oxygen
- Slow weight gain in infancy
- Need for breathing support (ventilation)
- Cough, less often
- Lung infection, less often
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 allergy and immune system specialists, 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, The PAP Foundation and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: Children's Interstitial Lung Disease Foundation, The PAP Foundation, Immune Deficiency 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 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
It is caused by changes in one of several genes, such as ABCA3, CSF2RB, SFTPB, SFTPC, or CSF2RA. Depending on the gene, it is autosomal recessive, autosomal dominant, or X-linked recessive.
Also known as: congenital pap; congenital pulmonary alveolar proteinosis; genetic disorder of surfactant dysfunction; inborn error of pulmonary surfactant metabolism; inborn error of surfactant metabolism; pulmonary surfactant metabolism dysfunction
Patient organizations
- Children's Interstitial Lung Disease FoundationHereditary pulmonary alveolar proteinosis · United States
- The PAP FoundationHereditary pulmonary alveolar proteinosis · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary pulmonary alveolar proteinosis.
Explore research for Hereditary pulmonary alveolar proteinosis
Explore actively recruiting Hereditary pulmonary alveolar proteinosis studies with HealthSpark.
Find actively recruiting studies for Hereditary pulmonary alveolar proteinosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Hereditary pulmonary alveolar proteinosis studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Hereditary pulmonary alveolar proteinosis
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Hereditary pulmonary alveolar proteinosis experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.