title: Assessment and management of pulmonary alveolar proteinosis in a reference center.
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.
authors.affiliation: Respiratory Disease Unit, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Campo
authors.forename: Francesca
authors.initials: F
authors.lastname: Mariani
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Rodi
authors.forename: Elena
authors.initials: E
authors.lastname: Paracchini
authors.forename: Eric
authors.initials: E
authors.lastname: Tsana
authors.forename: Davide
authors.initials: D
authors.lastname: Piloni
authors.forename: Isabella
authors.initials: I
authors.lastname: Nobili
authors.forename: Zamir
authors.initials: Z
authors.lastname: Kadija
authors.forename: Angelo
authors.initials: A
authors.lastname: Corsico
authors.forename: Isa
authors.initials: I
authors.lastname: Cerveri
authors.forename: Claudia
authors.initials: C
authors.lastname: Chalk
authors.forename: Bruce C
authors.initials: BC
authors.lastname: Trapnell
authors.forename: Antonio
authors.initials: A
authors.lastname: Braschi
authors.forename: Carmine
authors.initials: C
authors.lastname: Tinelli
authors.forename: Maurizio
authors.initials: M
authors.lastname: Luisetti
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D016273:Occupational Exposure; D011649:Pulmonary Alveolar Proteinosis / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*; D011663:Pulmonary Surfactants; D012016:Reference Values
chemical_list: D011663:Pulmonary Surfactants