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Alveolar proteinosis
Alveolar proteinosis is a rare pulmonary disorder that impairs respiratory function through parenchymal, vascular, or airway involvement
Prevalence
1 / 100 000
1/150,000
US Estimated
0.7–1.0/100,000
Europe Estimated
Age of Onset
Adult
ICD-10
J84.01
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
Rare
X-linked recessive
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A rare lung disorder characterized by the accumulation of surfactant within the alveoli, leading to respiratory distress and hypoxemia. It can be idiopathic, congenital, or secondary, with treatment options including whole lung lavage and GM-CSF therapy.
5 Facts you should know
FACT
Individuals with alveolar proteinosis often experience a buildup of a lipoproteinaceous material within the alveoli, leading to impaired gas exchange in the lungs
FACT
Diagnosis typically involves imaging studies like chest X-rays or CT scans, alongside bronchoalveolar lavage (BAL) for confirmation through examination of the lavage fluid
FACT
Treatment options include whole lung lavage, a procedure aimed at removing the accumulated material from the lungs, along with potential use of medications like granulocyte-macrophage colony-stimulating factor (GM-CSF)
FACT
The cause of alveolar proteinosis can vary; it may result from disruptions in surfactant clearance or abnormal immune responses, though in some cases, the cause remains unknown
FACT
Prognosis after treatment is generally favorable, but recurrence is possible, necessitating ongoing monitoring
Interest over time
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Common signs & symptoms
Progressive dyspnea
Chronic, nonproductive cough
Fatigue and reduced exercise tolerance
Chest discomfort
Increased susceptibility to respiratory infections
Hypoxemia
Current treatments
Whole-lung lavage (WLL)
standard/“gold standard” for symptomatic disease 
Inhaled GM-CSF (e.g., inhaled recombinant GM-CSF)
used to improve disease control / reduce WLL needs in autoimmune PAP
Refractory cases (specialist centers)
options can include rituximab and other approaches; lung transplant rarely
References:
Trapnell BC, Whitsett JA, Nakata K. Pulmonary alveolar proteinosis. <i>N Engl J Med.</i> 2003;349(26):2527–2539. doi:10.1056/NEJMra022710 – Comprehensive review of pathophysiology, clinical features, and treatment of PAP. Seymour JF, Presneill JJ. Pulmonary alveolar proteinosis: pathogenesis, diagnosis and therapy. <i>Thorax.</i> 2002;57(2):192–200. doi:10.1136/thorax.57.2.192 – Classic overview of clinical presentation and diagnostic features. Inoue Y, Trapnell BC, Tazawa R, et al. Characteristics of a large cohort of patients with autoimmune pulmonary alveolar proteinosis in Japan. <i>Am J Respir Crit Care Med.</i> 2008;177(7):752–762. doi:10.1164/rccm.200708-1201OC – Epidemiology and outcomes in autoimmune PAP. Bonella F, Luisetti M, Rottoli P. Pulmonary alveolar proteinosis: new insights from a rare disease. <i>Orphanet J Rare Dis.</i> 2011;6:16. doi:10.1186/1750-1172-6-16 – Review of PAP disease mechanisms and emerging therapies. McCarthy C, Carey BC, Christodoulopoulos P, et al. A role for GM-CSF in the pathogenesis of pulmonary alveolar proteinosis. <i>Am J Respir Crit Care Med.</i> 2018;197(3):356–368. doi:10.1164/rccm.201706-1252CI – Insights into GM-CSF autoantibodies and pathogenesis.