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. Pulmonary alveolar proteinosis pap is a rare diffuse lung disease with three clinical forms, congenital, acquired idiopathic and secondary, characterized by an accumulation of large amounts of a phospholipoproteinaceous material in the alveoli due to a deficiency in granulocytemacrophage colonystimulating factor gmcsf activity 114. Lavado broncoalveolar total en proteinosis alveolar pulmonar. This results in a progressive impairment of gas exchange. At that time, the diagnosis was pulmonary alveolar proteinosis and symptoms in a community population of children. Whole lung lavage for pulmonary alveolar proteinosis. Pulmonary alveolar proteinosis, commonly known as pap, is a rare lung syndrome that occurs in about seven people per million in the general population, affecting both men and women of all ethnicities. Pulmonary alveolar proteinosis pap is a disease characterized by the deposition of amorphous lipoproteinaceous material in the alveoli secondary to abnormal processing of surfactant by macrophages. Opportunistic infections in patients with pulmonary alveolar. Research open access whole lung lavage therapy for pulmonary alveolar proteinosis. Anesthesia for lung lavage in pediatric patient with. The first case of pulmonary alveolar proteinosis pap was described.
Pulmonary alveolar proteinosis, commonly known as pap, is a rare lung syndrome that occurs in about seven people per million in the general population, affecting both men and women of all ethnicities, regardless of socioeconomic class. Pulmonary alveolar proteinosis is characterized by the accumulation of granular proteinaceous material within the alveoli of the lung. The acquired or idiopathic form of pap is the most common, but secondary and congenital forms occur as well. Pulmonary alveolar proteinosis jouneau 2020 respirology. Pdf a case of idiopathic pulmonary alveolar proteinosis. Pulmonary alveolar proteinosis european respiratory society. Pulmonary alveolar proteinosis pap is a rare lung disease characterized by accumulation of phospholipoproteinaceous material in the alveoli. Van moorsel5, ulrich costabel4, vincent cottin7, toshio ichiwata8, yoshikazu inoue9. To investigate the function of these cells, they were. Aug 01, 2012 pulmonary alveolar proteinosis and pulmonary cryptococcosis in an adolescent boy j pediatr, 80 3 1972, pp.
Dec 01, 2004 pulmonary alveolar proteinosis pap is characterised by the intra alveolar accumulation of a lipoproteinaceous material similar to surfactant that stains for periodic acidschiff pas. Manual or mechanical chest percussion might be performed to improve drainage. Pulmonary alveolar proteinosis radiology reference article. Pulmonary alveolar proteinosis is a rare disease first described in 1958 by samuel h rosen and characterised by the accumulation. New york, new york in 1958, rosen, castleman and liebow1 reported a series of 27 cases of a pulmonary disease which was characterized by the accumulation of a proteinaceous material in the alveoli. 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.
Pulmonary alveolar proteinosis was first described in 27 patients by rosen et al. Pulmonary alveolar proteinosis and histoplasmosis springerlink. Jun 10, 2017 whereas the intra alveolar filling does not differentiate between different forms of pap, histopathological examination of the alveolar wall structures may be normal. Pulmonary alveolar proteinosis pap is a rare entity, more than 90% of the adult cases are primary, and the secondary causes are in general hematological or immune deficiencies. The accumulated substances interfere with the normal gas exchange and expansion of the lungs, ultimately leading to difficulty breathing and a predisposition to. The age of manifestation plays a central role in the differential diagnosis of the almost 100 conditions and provides an efficient path to. Pulmonary alveolar proteinosis pap is a rare disease that was first described in 1958.
Pulmonary alveolar proteinosis pap is a rare lung disorder characterized by an abnormal accumulation of surfactantderived lipoprotein compounds within the alveoli of the lung. Abstract pulmonary alveolar proteinosis pap, characterized by deposition of intraalveolar pas positive. Introductionpulmonary alveolar proteinosis pap is a rare disease. Lavage in an obese patient with pulmonary alveolar proteinosis. Rosen,2 in a subsequent study, included a 7yearold girl whose medical course was not. Trapnell3, francesco bonella4, jan grutters5, koh nakata6, coline h. Anaesthetic, procedure and complications management of serial. Introductionpulmonary alveolar proteinosis pap is an unusual lung disorder of unknown etiology characterized by the accumulation of large amounts of a phospholipoproteinaceous material in the alveoli that stains positive by. 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. Lemiere c, ernst p, olivenstein r, yamauchi y, govindaraju k, ludwig in january. Introductionpulmonary alveolar proteinosis pap is an unusual lung disorder of unknown etiology characterized by the accumulation of large amounts of a phospholipoproteinaceous material in the alveoli that stains positive by using the periodic acidschiff pas method. Viral pneumonia and pulmonary alveolar proteinosis. Disruption of surfactant homeostasis can cause pulmonary alveolar proteinosis pap, a syndrome occurring in a heterogeneous group of rare diseases defined by a common pathologic featureexcessive accumulation of intra alveolar surfactant, which results in dyspnea, impaired oxygen uptake, and hypoxemic respiratory failure.
It is well established that patients with pulmonary alveolar proteinosis have a high incidence of complicating pulmonary infections, which suggests that the function of the alveolar macrophages is abnormal. Pulmonary alveolar proteinosis an overview sciencedirect. The acquired or idiopathic form of pap is the most common, but. Blood testing for differential diagnosis of pulmonary.
Pdf pulmonary alveolar proteinosis revealing a telomerase. Whereas the intra alveolar filling does not differentiate between different forms of pap, histopathological examination of the alveolar wall structures may be normal. Secondary pulmonary alveolar proteinosis in hematologic. The prevalence of acquired pulmonary alveolar proteinosis is about 0.
Loyd, in emery and rimoins principles and practice of medical genetics, 20 61. Wholelung lavage often is performed as the first line of treatment for this disease because it is a means to wash out the proteinaceous material from the alveoli and reestablish. Jan 27, 2017 autoimmune pulmonary alveolar proteinosis apap is a rare autoimmune lung disorder. The acquired or idiopathic form of pap is the most common, but secondary and congenital forms. Pulmonary alveolar proteinosis pap is a rare syndrome of progressive surfactant accumulation and resulting hypoxemic respiratory failure that usually begins insidiously and goes unnoticed until parenchymal lung involvement is extensive and sufficient to cause exertional dyspnea. Whole lung lavage therapy for pulmonary alveolar proteinosis. Therefore, we have investigated the occurrence of associated secondary alveolar proteinosis and pc pneumonitis in aids. Exhaled nitric oxide and and eosinophilic material in preserved alveolar architecture figure asthma. Pulmonary alveolar proteinosis pap is a syndrome defined by progressive accumulation of surfactant in pulmonary alveoli, which results in hypoxaemic respira. Autoimmune pulmonary alveolar proteinosis genetic and rare.
Wholelung lavage for pulmonary alveolar proteinosis chest. The tissues were stained by the periodic acidschiff method and by the immunoperoxidase method for surfactant specific apoprotein. It results in restrictive lung function and responds well to therapeutic lavage. Pulmonary alveolar proteinosis pap is a rare disease characterized by the accumulation of surfactantlike lipoproteinaceous material in the distal air spaces. A case of idiopathic pulmonary alveolar proteinosis. Pulmonary alveolar proteinosis pulmonary alveolar proteinosis. This disease shows very characteristic morphological changes, where the abnormal accumulation of surfactant in the intra alveolar space give us an alterations in the blood gas analysis, a restrictive process of. Pap can be classified into different types on the basis of the. This disease is characterized by an accumulation of amorphous lipoproteinaceous material, diastase resistant, within the alveolar spaces, stained positively by periodic acid shiff. Most cases affect adults between the ages of 2050 years. Overview pap is a syndrome characterized by progressive accumulation of surfactant phospholipids and proteins within alveoli and terminal airways. Pulmonary alveolar proteinosis pap is a rare interstitial lung disease with severe impairment of respiratory function caused by some genetic abnormalities of. It is a rare disorder, with an estimated prevalence of 0.
The disease is not associated with inflammation, and lung architecture is typically preserved 3. Update on the clinical diagnosis, management and pathogenesis of pulmonary alveolar proteinosis phospholipidosis. Pulmonary alveolar proteinosis is an uncommon disease characterized by the accumulation of surfactant proteins and phospholipids within the alveolar spaces. 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. Initial reports of this disease described it as respiratory failure secondary to overproduction of surfactant proteins within the alveoli. Pulmonary alveolar proteinosis is a rare, diffuse interstitial lung disease, characterized by alveolar obstruction. Formalin fixed paraffinembedded lung tissues n or lavage material n 4 from 17 patients in whom alveolar proteinosis was the primary disease and ten patients with other primary diagnoses but lung morphology similar to alveolar proteinosis were examined. Combinedmodality therapy for pulmonary alveolar proteinosis in a. Pap is a heterogeneous syndrome with different underlying mechanisms. Pulmonary alveolar proteinosis is a rare lung disease and accurate estimates of. Pulmonary alveolar proteinosis pap is a rare condition of unknown origin, characterized by the accumulation of surfactantderived phospholipoproteinaceous material in alveolar spaces. Pulmonary alveolar proteinosis pap is a rare lung disease in which surfactantrich lipoproteinaceous material accumulates within the alveolar space 154. Some centres use manual percussion and positional drainage during lavage to.
Lung alveolus proteinosis an overview sciencedirect topics. Persistence of pulmonary pathology and abnormal lung. Identification of the granulocytemacrophage colonystimulating factor gmcsf as an indispensable mediator of macrophage maturation and surfactant catabolism was the key discovery. According to various pathogenetic mechanisms and aetiologies, pap is classified as primary, secondary or congenital. Pap results in progressive dyspnoea of insidious onset, hypoxaemic respiratory failure, secondary infections and pulmonary fibrosis. Characterization of csf2ra mutation related juvenile. Pulmonary alveolar proteinosis pap is a rare disorder characterized by abnormal accumulation of a lipoproteinaceous material in the alveoli, which may lead to respiratory failure and has an. Competence centre for rare pulmonary diseases, chu rennes, univ rennes, rennes, france. Introductionpulmonary alveolar proteinosis pap is a disease characterized by the buildup of lipoprotein material inside the alveoli, significantly interfering with pulmonary gas exchange. Most cases have been observed in the united states. Pulmonary alveolar proteinosis is a broad group of rare diseases that. Wholelung lavage for pulmonary alveolar proteinosis. Pulmonary alveolar proteinosis was first described in 1958 on the basis of 27 biopsy and autopsy cases.
Pdf total lung lavage by awake flexible fiberoptic. Pulmonary alveolar proteinosis pap is a syndrome characterized by the accumulation of alveolar surfactant and dysfunction of alveolar macrophages. Pulmonary surfactant and pulmonary alveolar proteinosis. Pulmonary alveolar proteinosis is characterized by the remittent or progressive accumulation of lipidrich proteinaceous material within the alveolar sacs in the absence of inflammatory response. It is the most common form 90% of the cases of pulmonary alveolar proteinosis pap. Pulmonary alveolar proteinosis in children sciencedirect. There are four clinically distinct forms of pap, the autoimmune idiopathic. The clinical and radiologic phenotypes among them are very similar.
Pulmonary alveolar proteinosis, a case report harold stern, md. Pulmonary alveolar proteinosis pap was first described in 1958 by samuel h. Ct chest scans were performed in 7 cases, demonstrating a crazy paving pattern typically seen in alveolar proteinosis in all patients additional file 2. Pulmonary alveolar proteinosis pap is a diffuse pulmonary disease where lipoproteinaceous material, primarily surfactant and surfactant apoproteins, are accumulated in distal airway and alveoli. Pulmonary alveolar proteinosis pap is a rare disease characterized by the accumulation of surfactantlike lipoproteinaceous material in the distal air spaces and terminal bronchi, which may lead to impaired gas exchange. Pap is rare in children, with only a few dozen cases reported in the literature. Acquired disease can be idiopathic primary and secondary. Jun 10, 2017 pulmonary alveolar proteinosis is a broad group of rare diseases that are defined by the occupation of a lungs gasexchange area by pulmonary surfactants that are not properly removed. It may result from mutations in surfactant proteins or granulocyte macrophagecolony stimulating factor gmcsf receptor genes, it may be secondary to toxic inhalation or haematological disorders, or it may be autoimmune, with antigmcsf antibodies blocking activation of. Pulmonary alveolar proteinosis pap is a rare respiratory syndrome characterised by the accumulation of surfactant lipoproteins within the alveoli. Moreover, these patients can be considered at risk for secondary pulmonary alveolar proteinosis. Pneumocystis carinii pc has been recognized as frequently responsible for most opportunistic pulmonary infections occurring in immunocompromised aids and nonaids patients. Abnormalities include lymphocytic infiltration around airways and vessels and the progressive accumulation of surfactant. Bilateral whole lung lavage in pulmonary alveolar proteinosis a.
Pulmonary alveolar proteinosis pap is a rare lung disease characterized by abnormal accumulation of lipoproteinaceous surfactant component in the alveolar space. Since that time, clinicians understanding of this rare lung disease has improved dramatically. Pulmonary alveolar proteinosis pap is a rare disorder first described in 1958 and characterized by alveolar filling with a lipoprotein noncellular material positive for periodic acidschiff 1. Aug 31, 2016 whole lung lavage wll is a therapeutic procedure used to treat pulmonary alveolar proteinosis pap, a rare syndrome occurring in a heterogeneous group of lung diseases characterized by accumulation of lipoproteinaceous material in the alveoli, whicht impairs oxygen uptake and causes hypoxemic respiratory failure 2, 3. Pdf pulmonary alveolar proteinosis is a rare but potentially treatable disease, characterized by impaired surfactant metabolism that leads to. In subjects old enough for pulmonary function testing n 4, patients a, f, g, h, a marked reduction of fvc was observed fvc 16. Fig 1e pulmonary alveolar proteinosis is a broad group of rare diseases that are abstract defined by the occupation of a lung s gasexchange area by pulmonary.
Autoimmune pulmonary alveolar proteinosis genetic and. Pulmonary alveolar proteinosis pap is a rare disease of unknown etiology that is characterized by impaired surfactant metabolism, which leads to the accumulation of proteinaceous periodic acidschiffpositive material in the alveolar space 1,2. Pulmonary alveolar proteinosis pap is a rare pulmonary disease. Jun 11, 2012 pulmonary alveolar proteinosis pap is a rare syndrome characterized by pulmonary surfactant accumulation within the alveolar spaces. Pulmonary alveolar proteinosis journal of rare diseases. Pulmonary alveolar proteinosis pap is a rare pulmonary disease characterised by alveolar accumulation of surfactant. Unlimited viewing of the articlechapter pdf and any associated supplements and figures. Pulmonary alveolar proteinosis pap is a rare disorder in which excess surfactant accumu lates within pulmonary alveoli, causing cough, progressive dyspnea. Pulmonary alveolar proteinosis is a rare illness characterized by alterations in the normal depuration of surfactants from the. Wholelung lavage often is performed as the first line of treatment for this disease because it is a means to wash out the proteinaceous material from the alveoli and reestablish effective. This accumulation of surfactant is due to decreased clearance by the alveolar.
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