Pulmonary alveolar proteinosis pap also called alveolar proteinosis, alveolar phospholipidosis, pulmonary alveolar lipoproteinosis, pulmonary alveolar phospholipoproteinosis has been recognized for almost half a century, although descriptions of probable pap cases can be found in the earlier medical literature. Pulmonary alveolar proteinosis does not present only with alveolar disease. Autoimmune pulmonary alveolar proteinosis genetic and rare. Pulmonary alveolar proteinosis pap is a rare lung disorder of unknown etiology characterized by alveolar filling with floccular material that stains positive using the periodic acidschiff pas method and is derived from surfactant phospholipids and protein components see the image below. The three main types of pap are congenital, acquired, and secondary. Pulmonary alveolar proteinosis, a primary immunodeficiency of impaired gmcsf stimulation of macrophages. Secondary pulmonary alveolar proteinosis complicating. Pulmonary alveolar proteinosis pap is a rare disease in which a type of protein builds up in the air sacs alveoli of the lungs, making breathing difficult. Listing a study does not mean it has been evaluated by the u. Pulmonary alveolar proteinosis pap is a syndrome, a set of symptoms and signs not a single disease, in which surfactant in alveoli builds up slowly. Small amounts of this lipid and proteinrich fluid normally line the surfaces of the alveoli, reducing surface tension and thereby keeping the air spaces open.
If you have problems viewing pdf files, download the latest. This blocks air from entering alveoli and oxygen from passing through into the blood, which results in a feeling of breathlessness dyspnea. Congenital pulmonary alveolar proteinosis is caused. Pulmonary alveolar proteinosis progress in the first 44. It occurs when surfactant builds up in your lungs and clogs your air sacs, or alveoli. Pulmonary alveolar proteinosis constrictive bronchiolitis idiopathic and toxic exposure. Pulmonary alveolar proteinosis pap is a rare syndrome resulting from the accumulation of lipoproteinaceous materials in the alveoli and terminal airways due to impairment of surfactant clearance.
Pulmonary alveolar proteinosis is a disease of unknown cause characterized by accumulation in the alveolar spaces of surfactant. Autoimmune pulmonary alveolar proteinosis genetic and. Pioglitazone therapy of autoimmune pulmonary alveolar. Originally described in 26 patients by rosen and colleagues in 1958, 1 pap is now recognized to represent three distinct clinical forms with different pathogenic pathways box 481. Pulmonary disease certification examination blueprint purpose of the exam the exam is designed to evaluate the knowledge, diagnostic reasoning, and clinical judgment skills expected of the certified pulmonologist in the broad domain of the discipline. The recommendations in the atsers documents for spirometry and general. The pap foundation is a nonprofit patient advocacy organization dedicated to finding a cure and to improving the lives of those affected by pap. On imaging, pap is classically associated with the lung crazy paving pattern on ct, although it is a rare cause of this nonspecific finding. Hereditary pulmonary alveolar proteinosis with hepatic involvement. A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the. With exclusion of military personnel, twftfthsof the patients are women. Our aim was to obtain a factual portrayal of wll as.
Pulmonary alveolar proteinosis is a rare but potentially treatable disease, characterized by impaired surfactant metabolism that leads to accumulation in the alveoli of proteinaceous material rich in surfactant protein and its component. Pulmonary alveolar proteinosis pap is a lifethreatening lung disorder that affects men, women, and children. Pulmonary alveolar proteinosis in children uptodate. In this condition, a substance made up of fat and protein surfactant builds up in the air sacs alveoli of the lungs, making breathing difficult. Autoimmune pulmonary alveolar proteinosis apap is a rare. Pulmonary alveolar proteinosis pap characterized by abnormal alveolar filling with surfactants, floccular material and interferes with gas exchange is a rare lung disease. Tests can include spirometry and oxygen diffusing capacity in order to determine your lungs ability to absorb oxygen. Pulmonary alveolar proteinosis pap is a syndrome characterized by the accumulation of surfactant in alveolar macrophages and alveoli resulting in respiratory insuf. Open up the lung and keep the lung open repub, erasmus. The prognosis was highly variable, and for over three decades the pathophysiology and treatment of this disease remained a mystery. Pulmonary alveolar proteinosis pap is a diffuse lung disease that results from the accumulation of lipoproteinaceous material in the alveoli and alveolar macrophages due to abnormal surfactant homoeostasis. As shown in the results from sjostrands group, if one opens the lungs by applying a peak inspiratory pressure of 55 cmh20 with an endexpiratory alveolar.
Congenital pulmonary alveolar proteinosis is a rare form of respiratory failure that is present from birth. If you have problems viewing pdf files, download the latest version of adobe reader. Identification of the granulocytemacrophage colonystimulating factor gmcsf as an indispensable mediator of macrophage maturation. The accumulated substances interfere with the normal gas exchange and expansion of the lungs, ultimately leading to difficulty breathing and a predisposition to developing lung infections. Pulmonary alveolar proteinosis pap is a rare lung condition. Pulmonary alveolar proteinosis pap is a rare disease characterized by the accumulation of surfactant derived lipoproteinaceous material filling the. These findings are consistent with diffuse alveolar damage and organizing pneumonia. Pulmonary alveolar proteinosis pap definition pulmonary alveolar proteinosis pap is a rare disease in which a type of protein builds up in the air sacs alveoli of. It is a syndrome of altered surfactant homeostasis, characterized by accumulation of periodicacidschiffpositive proteinaceous material in the alveoli.
Pulmonary alveolar proteinosis pap may develop in a primary idiopathic form, chiefly during middle age, or less commonly in the setting of inhalational exposure, hematologic malignancy, or immunodeficiency. Links to pubmed are also available for selected references. Congenital pulmonary alveolar proteinosis genetic and. Idiopathic pulmonary hemosiderosis genetic and rare diseases. Although pap comprises a heterogeneous group of diseases, autoimmune pap repre. Pulmonary fibrosis on highresolution ct of patients with. Pulmonary alveolar proteinosis pap comprises a heterogenous. Pulmonary alveolar proteinosis, first described by rosen et al in 1958, 1 is a rare pulmonary disease with a worldwide distribution. The course of the disease ranges from spontaneous resolution to respiratory failure. The ct appearance typically combines different types of opacities with a geographic pattern and a uniform zonal distribution with variation over time. Pulmonary alveolar proteinosis, a primary immunodeficiency. It happens most often in people in the age range of 30 to 60 years. However, the impact of spap on the prognosis of underlying mds remains.
The congregation of the protein in the alveolar space leads to difficulty in breathing, impaired pulmonary immunity, and susceptibility to both opportunistic. Pulmonary alveolar proteinosis pap cleveland clinic. Hematological disorders are the most common underlying conditions of spap, of which 74% of cases demonstrate myelodysplastic syndrome mds. Prior studies reporting the relative fractional composition of surfactant phospholipids is normal in pulmonary alveolar proteinosis pap patients 5 and csf2. Our aim was to obtain a factual portrayal of wll as currently practiced with. Pioglitazone therapy of autoimmune pulmonary alveolar proteinosis autoimmune pulmonary alveolar proteinosis piopap the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. The molecular basis of pulmonary alveolar proteinosis ncbi.
Subsequently, over 240 case reports and small series have described at. The aim of the study is to describe the epidemiologic, clinical, physiologic, and laboratory features of pap in a large singlecenter cohort of patients with pap. Statin as a novel pharmacotherapy of pulmonary alveolar. Pulmonary alveolar proteinosis is a rare but potentially treatable disease, characterized by impaired surfactant metabolism that leads to accumulation in. Autoantibodies against gmcsf may cause pulmonary alveolar proteinosis. Pulmonary alveolar proteinosis uf health, university of. Severe early onset pulmonary alveolar proteinosis due to. Your healthcare provider may have you do repeat lung function tests over time to track how well your disease is controlled.
Two forms are primary and secondary caused by lung infections, hematologic malignancies, inhalation of mineral dusts, silica, titanium oxide, aluminium and insecticides. Whole lung lavage therapy for pulmonary alveolar proteinosis. Inhaled gmcsf therapy for autoimmune pulmonary alveolar. Pulmonary alveolar proteinosis is a rare clinical syndrome that was first described in 1958. Two of the patients conformed to the classical description of idiopathic or primary pap. This is a pdf file of an unedited manuscript that has. Inhaled gmcsf therapy for autoimmune pulmonary alveolar proteinosis. Pulmonary grand rounds salman alim pulmonary critical care fellow cleveland clinic florida 2. Pulmonary alveolar proteinosis pathology britannica. The objective of this study was to evaluate the ct findings of pap with a focus on pulmonary fibrosis secondary to pap.
Pulmonary alveolar proteinosis pap was first described in 1958 as an uncommon disorder in adults characterized by the accumulation of lipoproteinaceous material within alveoli. Symptoms typically begin the newborn period and get worse over time. Pulmonary alveolar proteinosis radiology reference. What is pulmonary alveolar proteinosis usmle forum. T can play an important role in the diagnosis of pulmonary alveolar proteinosis.
The documents contained in this web site are presented for information purposes only. Pulmonary alveolar proteinosis, a rare lung disease, is caused by a buildup of material in the air sacs. Pulmonary alveolar proteinosis pap is a rare lung disorder characterized by an abnormal accumulation of surfactantderived lipoprotein compounds within the alveoli of the lung. Pulmonary alveolar proteinosis pap is a rare disease characterized by excess accumulation of proteinaceous and lipidrich material in the alveolar spaces. Autoimmune pulmonary alveolar proteinosis pap is a rare disease marked by an accumulation of surfactant proteins and lipids in the narrow gas exchange pockets of the lung, leading to respiratory failure. Three cases of the rare disorder pulmonary alveolar proteinosis pap presented to our unit over the past thirteen years. Macrophages in alveoli were noted as well as a few hyaline membranes. Surprisingly, alveolar macrophages require granulocytemacrophage colonystimulating factor gmcsf to perform this function. Surfactant is a natural substance that lowers surface tension in your lungs and allows you to breathe.
Pulmonary alveolar proteinosis information mount sinai. However, wll is not standardized and international consensus documents are lacking. Air is breathed in through the nasal passageways, travels through the trachea and bronchi to. Pulmonary alveolar proteinosis pap is a lung disease characterized by an abnormal intraalveolar accumulation of surfactantderived lipoproteinaceous material. Pulmonary alveolar proteinosis is a rare disorder in which lipoproteinaceous material accumulates within alveoli. Identification of the granulocytemacrophage colonystimulating factor gmcsf as an indispensable mediator of macrophage maturation and surfactant catabolism was the. Pulmonary alveolar proteinosis pap is a disease of alveolar accumulation of phospholipoproteinaceous material that results in gas exchange impairment leading to dyspnea and alveolar infiltrates. Pulmonary alveolar proteinosis list of high impact. Pulmonary alveolar proteinosis pap, also known as pulmonary alveolar phospholipoproteinosis, is a diffuse lung disease characterized by the accumulation of amorphous, periodic acidschiff paspositive lipoproteinaceous material in the distal air spaces. One patient appeared to have coexisting extrinsic allergic alveolitis with secondary pap, an association not previously described. Computed tomography of the thorax and subsequent bronchoscopy confirmed the diagnosis of pulmonary alveolar proteinosis pap, which was treated with whole lung lavage.
Lung disease characterized by progressive difficulty breathing dyspnea and cough due to the accumulation of lipoprotein material within the alveoli that impairs ventilation. Describe how lung volume, tissue elastance and alveolar surface tension affect the static compliance of the lungs. A pulmonary alveolus is a hollow cupshaped cavity found in the lung parenchyma where gas exchange takes place. The ct findings of pulmonary fibrosis in patients with pulmonary alveolar proteinosis pap are not yet well defined. We report a 68yearold female who presented with chronic cough and progressive dyspnoea. Drug induced lung injury a case of fatal bleomycin interstitial. Secondary pulmonary alveolar proteinosis spap is a very rare lung disorder comprising approximately 10% of cases of acquired pap. Get a printable copy pdf file of the complete article 245k, or click on a page image below to browse page by page. Hemosiderosis, pulmonary, with deficiency of gammaa globulin. Full text full text is available as a scanned copy of the original print version. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for autoimmune pulmonary. Pulmonary function tests measure the lungs ability to breathe and move oxygen. Lung biopsy is the gold standard for the diagnosis but may not be required. Pulmonary alveolar proteinosis pap is a rare syndrome characterized by the intraalveolar accumulation of surfactant lipids and proteins.
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