Abstract
Pulmonary alveolar proteinosis (PAP) is a term defining an ultra-rare group of disorders characterised by a perturbation in surfactant homeostasis, resulting in its accumulation within airspaces and impaired gas transfer. In this report we provide data from a cohort of PAP patients (n = 81) followed for more than two decades at the San Matteo University Hospital of Pavia, Italy. In agreement with other large series in PAP individuals, 90% of the study subjects were affected by autoimmune/idiopathic PAP, while the remaining subjects were divided as follow: congenital 1%, secondary 4% and PAP-like 5%. The disease affected males and females with a ratio of 2:1 and approximately one third of PAP patients were lifelong nonsmokers. Occupational exposure was reported in 35% of subjects in this series. With reference to the PAP clinical course, in 29 patients (7% with spontaneous remission) disease severity did not necessitate whole lung lavage (WLL) in the long-term follow up. On the other hand, 44 PAP patients underwent therapeutic WLL: in 31 subjects a single WLL was sufficient to provide long term, durable benefit, whereas 13 patients required multiple WLLs. The intra-patient mean interval between two consecutive WLLs was 15.7 ± 13.6 months. When baseline data among never lavaged and PAP patients lavaged at least once were compared, the need for lavage was significantly associated with serum biomarkers (CEA, Cyfra, LDH), lung function parameters forced vital capacity (FVC), and lung diffusing capacity (Dlco). We conclude that patient cohorts with an ultra-rare disease, such as PAP, referred to a single reference center, can provide useful information on the natural history and clinical course of the disease.
Highlights
Pulmonary alveolar proteinosis (PAP) is a syndrome characterized by the accumulation of surfactant within alveolar macrophages and alveoli, which impairs pulmonary gas transfer and results in clinical severity ranging from an asymptomatic clinical presentation to respiratory failure and death [1]
We have focused on two aims : first, the description of the clinical characteristics of the disease at presentation in our series of PAP patients; secondly, to analyse some baseline functional and biochemical parameters in function of the long term follow up of patients, especially with respect to the need for whole lung lavage (WLL)
In order to keep the study group as homogeneous as possible, in this paper we focused on primary PAP patients only, collectively referred to as PAP patients
Summary
Pulmonary alveolar proteinosis (PAP) is a syndrome characterized by the accumulation of surfactant within alveolar macrophages and alveoli, which impairs pulmonary gas transfer and results in clinical severity ranging from an asymptomatic clinical presentation to respiratory failure and death [1]. In 2011, Bonella and associates described the characteristics of a cohort of 70 PAP patients followed at a single center in Essen, Germany [12]. In this communication we report on a cohort of 81 PAP patients registered at the Pneumology Section of the San Matteo University Hospital of Pavia, Italy. It should be emphasized that the series of patients described in a single reference center, less relevant than large meta-analysis or multicenter series, has the advantage of including detailed experience accumulated over several years (decades, as in our case)
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