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. The washings are often opaque or milky because the fluid is rich in protein and fats. Abca3 gene mutations in newborns with fatal surfactant defi. 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. Mechanistically, these disturbances of surfactant homeostasis may be caused by an altered surfactant production, removal, or both. Pulmonary alveolar proteinosis pap, also referred to as al veolar proteinosis. Congenital pulmonary alveolar proteinosis is a rare form of respiratory failure that is present from birth. Pap is characterized by intraalveolar accumulation of surfactant, namely lipid and proteinaceous material that is periodic acidschiff pas positive when visualized on light microscopy. Shehashadrepeated bilateral bronchopulmonany lavage, most recently atage14years.
For radiologists, the term pulmonary alveolar proteinosis is misleading because the ct appearance is not purely alveolar. Pulmonary alveolar proteinosis definition of pulmonary. Pulmonary alveolar proteinosis pap is a lung disease characterized by an abnormal intraalveolar accumulation of surfactantderived lipoproteinaceous material. Autoimmune pulmonary alveolar proteinosis apap is a rare autoimmune. Symptoms typically begin the newborn period and get worse over time. Pulmonary alveolar proteinosis pap is a rare disease in children characterised by the intraalveolar accumulation of a lipoproteinaceous material similar to surfactant. Longterm followup and treatment of congenital alveolar. Description in this disease, also called alveolar proteinosis or phospholipidosis, gas exchange in the lungs is progressively impaired by the accumulation of phospholipids, compounds widely found in other living cells of the body. 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. Pap is a lung condition that is caused by a buildup of proteins and other substances in the air sacs of the lungs, called the alveoli. It affects the lungs or more accurately the alveoli. Description of additional supplementary files 49k, pdf. Autoantibodies against gmcsf may cause pulmonary alveolar proteinosis. Pap is characterized by intraalveolar accumulation of surfactant, namely lipid and proteinaceous material that is periodic acidschiff.
Pulmonary alveolar proteinosis in children sciencedirect. Pulmonary alveolar proteinosis is accumulation of surfactant in alveoli. Pulmonary alveolar proteinosis pap is an extremely rare cause of respiratory failure in the pediatric age group. Pulmonary alveolar proteinosis pap was first described in 1958 by samuel. The congregation of the protein in the alveolar space leads to difficulty in breathing, impaired pulmonary immunity, and susceptibility to both opportunistic and acquired pulmonary.
Alveolar proteinosis is a serious condition that generally has no identified cause, though a few people with silicosis or infection develop it. Although pap comprises a heterogeneous group of diseases, autoimmune pap repre. Whole lung lavage is currently the gold standard therapy for severe cases of pulmonary alveolar proteinosis. If you have problems viewing pdf files, download the latest.
Pulmonary alveolar proteinosis pap is a rare lung disease in which lipoproteinaceous material is accumulated in the alveoli and terminal bronchioles, resulting in the development of respiratory failure. The image is so typical, that together with the characteristic bronchoalveolar lavage examination with presence of periodic acid schiff positive substance is sufficient for. Pulmonary alveolar proteinosis pap is a rare pulmonary disease characterised by alveolar accumulation of surfactant. 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. On imaging, pap is classically associated with the lung crazy paving pattern on ct, although it is a rare cause of this nonspecific finding. There is little or no lung inflammation, and the underlying lung architecture is preserved. Autoimmune pulmonary alveolar proteinosis genetic and. Diagnosis is based on bronchoalveolar lavage, although characteristic xray and laboratory test abnormalities occur. Pdf pulmonary alveolar proteinosis pap is a rare syndrome characterized by. Pulmonary alveolar proteinosis is a very rare interstitial lung disease caused by abnormal intraalveolar surfactant accumulation. Alterations in spb and spc expression in neonatal lung disease.
Diagnosis of postnatal alveolar proteinosis should be considered in every infant with respiratory distress with diffuse alveolar and interstitial infiltrate. It occurs when surfactant builds up in your lungs and clogs your air sacs, or alveoli. Bronchoaveolar lavage is the key to diagnosis, with a milky appearance and pas positive material in the intra. Pulmonary alveolar proteinosis pap is a rare lung condition. Pulmonary alveolar proteinosis radiology reference. Hematological disorders are the most common underlying conditions of spap, of which 74% of cases demonstrate myelodysplastic syndrome mds.
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. To obtain a sample, doctors use a bronchoscope to wash segments of the lung with a saltwater solution and then collect the washings bronchoalveolar lavage. Congenital pulmonary alveolar proteinosis genetic and. There are areas of patchy groundglass opacification with smooth interlobular septal thickening and intralobular interstitial thickening white circles a polygonal pattern referred to as crazy paving for this same photo without the arrows, click here for more information, click on the link if you see this icon.
Atypical image of pulmonary alveolar proteinosis a case. Pulmonary alveolar proteinosis pap is a rare disease characterized by excess accumulation of proteinaceous and lipidrich material in the alveolar spaces. Omim entry % 610910 pulmonary alveolar proteinosis. Pulmonary alveolar proteinosis statpearls ncbi bookshelf. Pulmonary alveolar proteinosis is a pathologic entity characterized by intraalveolar surfactant accumulation. It is the most common form 90% of the cases of pulmonary alveolar proteinosis pap. Based on the clinical diagnosis of alveolar proteinosis we initiated whole lung lavages and some additional treatments.
Acquired disease can be idiopathic primary and secondary. To make a definitive diagnosis of pulmonary alveolar proteinosis, doctors examine a sample of the fluid from the alveoli. Pap is characterized by abnormal accumulation of pulmonary surfactant in the alveolar space, which impairs gas exchange leading to a severe hypoxemia. Pulmonary alveolar proteinosis is a rare lung disease and accurate estimates of. Definition pulmonary alveolar proteinosis pap is a rare disease of the lungs. Pulmonary alveolar proteinosis and first successful whole. 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. It is a syndrome of altered surfactant homeostasis, characterized by accumulation of periodicacidschiffpositive proteinaceous material in the alveoli.
Pulmonary alveolar proteinosis pap is a rare pulmonary disorder caused by a congregation of excessive lipoproteinaceous material in the alveolar spaces due to impaired surfactant metabolism. It happens most often in people in the age range of 30 to 60 years. Pulmonary alveolar proteinosis is a rare disorder in which lipoproteinaceous material accumulates within alveoli. Statin as a novel pharmacotherapy of pulmonary alveolar. Pulmonary alveolar proteinosis pulmonary disorders msd. This blocks air from entering alveoli and oxygen from passing through into the blood, which results in a feeling of breathlessness dyspnea. At presentation the child had global respiratory insufficiency, combined with an elevated level of ldh and cea figure figure2a. Surprisingly, alveolar macrophages require granulocytemacrophage colonystimulating factor gmcsf to perform this function. The pap foundation is a nonprofit patient advocacy organization dedicated to finding a cure and to improving the lives of those affected by pap. These are sacs of air within the lungs and they can be filled with protein buildup, reducing their. The acquired form of pulmonary alveolar proteinosis is the most common form, accounting for approximately 90% of cases.
Pulmonary alveolar proteinosis pap is defined by the accumulation of pulmonary surfactants in the alveolar space fig 1. Pulmonary alveolar proteinosis pap is a syndrome of reduced gmcsfdependent, macrophagemediated surfactant clearance, dysfunctional foamy alveolar macrophages, alveolar surfactant accumulation, and hypoxemic respiratory failure for which the pathogenetic mechanism is unknown. Secondary pulmonary alveolar proteinosis spap is a very rare lung disorder comprising approximately 10% of cases of acquired pap. Pulmonary alveolar proteinosis pap cleveland clinic. Takaki m, tanaka t, komohara y, tsuchihashi y, mori d, hayashi k, fukuoka j, yamasaki n, nagayasu t, ariyoshi k, morimoto k, nakata k. Pulmonary alveolar proteinosis pap is a rare syndrome characterized by pulmonary surfactant accumulation within the alveolar spaces. Although airspace, interstitial, or groundglass opacities can dominate the ct appearance of pulmonary alveolar proteinosis. Pdf pulmonary alveolar proteinosis is a rare but potentially treatable disease, characterized by. Whole lung lavage therapy for pulmonary alveolar proteinosis. Two clinically different pediatric types have been defined as congenital pap. However, the impact of spap on the prognosis of underlying mds remains unknown. 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. Pulmonary alveolar proteinosis, first described by rosen et al in 1958, 1 is a rare pulmonary disease with a worldwide distribution.
Congenital pulmonary alveolar proteinosis is caused by genetic. Identification of the granulocytemacrophage colonystimulating factor gmcsf as an indispensable mediator of macrophage maturation. Pulmonary alveolar proteinosis, a rare lung disease, is caused by a buildup of material in the air sacs. No articles related to pulmonary alveolar proteinosis. Pulmonary alveolar proteinosis pap is a syndrome characterized by the accumulation of surfactant in alveolar macrophages and alveoli resulting in respiratory insuf. A clinical practice survey was conducted globally by means of a questionnaire and included 27 centers performing wll in pediatric andor adult. A lung lavage technique in an infant with pulmonary alveolar. Two clinically different pediatric types have been defined as congenital pap which is fatal and a lateonset pap which is similar to the adult form and less severe. Pulmonary alveolar proteinosis a case report by renee m. The prevalence of acquired pulmonary alveolar proteinosis is about 0.
Pulmonary alveolar proteinosis is a rare disease characterized by accumulation of lipoproteinaceous material within alveoli. Pdf congenital pulmonary alveolar proteinosis researchgate. 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. Onadmission shehadnoted anincrease incough, mildfever, decreased activity, andincreased irritability. In others, it occurs with lung infection or an immune problem.
Identification of the granulocytemacrophage colonystimulating factor gmcsf as an indispensable mediator of macrophage maturation and surfactant catabolism was the key discovery. 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 alveolar proteinosis pap is a lung disorder which was first described in 1958 by rosen et al. Inhaled gmcsf therapy for autoimmune pulmonary alveolar proteinosis. Pulmonary alveolar proteinosis is an uncommon disease characterized by the accumulation of surfactant proteins and phospholipids within the alveolar spaces. Autoimmune pulmonary alveolar proteinosis apap is a rare autoimmune lung disorder.
In sri lanka this is the first reported successful whole lung lavage for a patient. Inhaled gmcsf therapy for autoimmune pulmonary alveolar. 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. Pulmonary alveolar proteinosis pap is a lifethreatening lung disorder that affects men, women, and children. Physical examination wasnormal except forchanges ofachronic allergic rhinitis. What makes him different from other children in the world is that since the ninth month of his life he has been mechanically ventilated. Neonatal and paediatric intensive care 446 neonatal health 1147 sids 16 palliative care 1 palliative care. The prevalence of autoimmune previously referred to as idiopathic pap is 0. The treatment of choice for alveolar proteinosis in children is wholelung lavage, by which proteinaceous material deposited in the alveoli is removed by instilling. Usually, it appears as a crazypaving pattern on highresolution computed tomography. Secondary pulmonary alveolar proteinosis complicating. Adultonset hereditary pulmonary alveolar proteinosis. Most cases affect adults between the ages of 2050 years.
1080 32 1112 353 1300 679 570 345 263 1187 1476 76 1453 1116 969 306 1344 507 1100 474 366 101 322 730 126 1316 113 880 1467 158 108 780 1291 53 1324 917 153 1355 1452 1180 238 184 1450 736 1170 639 403 399 1214