The parallel lives of alpha1-antitrypsin deficiency and pulmonary alveolar proteinosis.
In 1963, five cases of alpha1-antitrypsin deficiency were reported in the scientific literature, as well as an attempt to treat pulmonary alveolar proteinosis by a massive washing of the lung (whole lung lavage). Now, fifty years later, it seems the ideal moment not only to commemorate these publications, but also to point out the influence both papers had in the following decades and how knowledge on these two fascinating rare respiratory disorders progressed over the years. This paper is therefore not aimed at being a comprehensive review for both disorders, but rather at comparing the evolution of alpha1-antitrypsin, a rare disorder, with that of pulmonary alveolar proteinosis, an ultra-rare disease. We wanted to emphasize how all stakeholders might contribute to the dissemination of the awareness of rare diseases, that need to be chaperoned from the ghetto of neglected disorders to the dignity of recognizable and treatable disorders.
Department of Molecular Medicine, Pneumology Unit, San Matteo Hospital Foundation, University of Pavia, Piazza Golgi 1, Pavia 27100, Italy. M.Luisetti@smatteo.pv.it.
Bruce C
BC
Trapnell
Maurizio
M
Luisetti
D006801:Humans; D008168:Lung / Q000473:pathology; D011649:Pulmonary Alveolar Proteinosis / Q000175:diagnosis / Q000453:epidemiology*; D035583:Rare Diseases / Q000453:epidemiology; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis / Q000453:epidemiology*