Hereditary pulmonary alveolar proteinosis

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Hereditary pulmonary alveolar proteinosis

Synonyms: Congenital PAP | Congenital pulmonary alveolar proteinosis

A rare genetic interstitial lung disease due to mutations in the CSF2R (colony-stimulating factor 2 receptor) alpha or beta subunits and characterized by alveolar accumulation of pulmonary surfactant presenting a highly variable clinical presentation ranging from asymptomatic to severe respiratory failure. Characteristic lung biopsy findings include periodic acid-Schiff-positive granular eosinophilic material enlarged foamy alveolar macrophages and well-preserved alveolar walls. The Granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function is impaired but GM-CSF receptor autoantibodies are absent.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Advocacy Organizations

Ukrainian Association of Pediatric Immunology

Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.

Accessia Health

Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.

Breathe Support Network

MISSION STATEMENT The Breathe Support Networks mission is to provide support and education for pulmonary fibrosis patients and their families, helping them to better #LIVEwithPF. This includes, but is not limited to: - education about pulmonary fibrosis - guiding patients and families on how to talk to their healthcare team - providing tips to live a healthier more productive life - providing information about other pulmonary fibrosis resources

Clinical Trials

For a list of clinical trials in this disease area, please click here.