Journal Article

Prevalence and healthcare burden of pulmonary alveolar proteinosis

Avetisyan, Ruzan, Carey, Brenna C., McCarthy, Cormac, Chalk, Claudia, Trapnell, Bruce C.

2018

Overview

Pulmonary alveolar proteinosis (PAP) is a rare syndrome of alveolar surfactant accumulation, resulting hypoxemic respiratory failure, and increased infection risk. Despite advances in our understanding of disease pathogenesis and the availability of improved diagnostics, the epidemiology and healthcare burden of PAP remain poorly defined. To determine the prevalence, and healthcare utilization and costs associated with PAP, we interrogated a large health insurance claims database containing comprehensive data for approximately 15 million patients in the United States. We also evaluated data from a referral-based diagnostic testing program collected over a 15-year period. The prevalence of PAP was determined to be 6.87 ± 0.33 per million in the general population, similar in males and females, and increased with age, however considering difficulties and delays in diagnosing this is likely a minimum estimate of true prevalence. PAP patients had significantly more comorbidities, health care utilization and associated costs compared to control patients precisely matched for age and gender. Between 2004 and 2018, 249 patients confirmed to have PAP were evaluated to identify the PAP-causing disease; 91.5% had autoimmune PAP, 3% had hereditary PAP caused by GM-CSF receptor mutations, 4% had secondary PAP, and 1.5% had congenital PAP. Considering the high diagnostic accuracy of serum GM-CSF autoantibody testing and predominance of autoimmune PAP, these results emphasize the importance of utilizing blood-based testing in PAP syndrome to identify the PAP-causing disease rather than invasive lung biopsies, resulting in earlier diagnosis, reduced morbidity and lower healthcare costs.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Adolescent / Adult / Age / Aged / Alveoli / Analysis / Autoantibodies - metabolism / Blood cancer / Census of Population / Comorbidity / Congenital diseases / Diagnostic tests / Epidemiology / Female / Gender / GM-CSF autoantibody / Granulocyte-Macrophage Colony-Stimulating Factor - metabolism / Granulocytes / Health care costs / Health insurance / Healthcare burden / Human Genetics / Humans / Insurance claims / Letter to the Editor / Male / Medical care utilization / Medical research / Medicine / Medicine & Public Health / Middle Aged / Mutation / Paralysis / Pathogenesis / Patients / Pharmacology/Toxicology / Phosphorylation / Prevalence / Prevalence studies (Epidemiology) / Pulmonary alveolar proteinosis / Pulmonary Alveolar Proteinosis - economics / Pulmonary Alveolar Proteinosis - epidemiology / Pulmonary Alveolar Proteinosis - immunology / Pulmonary Alveolar Proteinosis - metabolism / Rare diseases / Rare pulmonary diseases / Retrospective Studies / Surfactants / Young Adult