Disease Directory Pulmonary Alveolar Proteinosis
Respiratory

Pulmonary Alveolar Proteinosis

Also known as: PAP, alveolar proteinosis, GM-CSF deficiency PAP

Prevalence

Approximately 1–2 per million

Onset

Adult (autoimmune form); neonatal (congenital form)

Type

Rare diffuse lung disease

Gene

CSF2RA, CSF2RB (autoimmune)

About Pulmonary Alveolar Proteinosis

Pulmonary alveolar proteinosis is characterised by the accumulation of surfactant-derived lipoproteinaceous material in the alveoli due to impaired clearance by alveolar macrophages. The autoimmune form, caused by neutralising anti-GM-CSF autoantibodies, is the most common subtype in adults, while hereditary forms result from mutations in GM-CSF receptor genes. Whole lung lavage remains the standard of care, and GM-CSF supplementation is an emerging therapeutic strategy for autoimmune PAP.

Common Clinical Features

Progressive dyspnoea on exertion Dry or mildly productive cough Fatigue Hypoxaemia at rest or on exertion Crazy-paving pattern on HRCT Increased susceptibility to opportunistic infections Weight loss in advanced disease

Clinical Trial Eligibility Tips

What to know before applying to Pulmonary Alveolar Proteinosis trials.

Anti-GM-CSF antibody titre is a key diagnostic and eligibility marker for autoimmune PAP trials; ensure serology is documented at a recognised laboratory.

Some GM-CSF therapy trials exclude patients who have undergone whole lung lavage within a defined period; check the wash-out requirement before applying.

Genetic testing to exclude hereditary PAP (CSF2RA/CSF2RB mutations) may be required before enrolment in autoimmune-specific studies.

Patient Resources

Patient Organization

Pulmonary Alveolar Proteinosis Foundation

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:747)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Pulmonary Alveolar Proteinosis trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Pulmonary Alveolar Proteinosis. Updated daily.

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