It occurs when surfactant builds up in your lungs and clogs your air sacs, or alveoli. 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. Autoimmune pulmonary alveolar proteinosis apap is a rare autoimmune. The alveoli are the part of the lungs that contain air. 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.
The pap foundation is a nonprofit patient advocacy organization dedicated to finding a cure and to improving the lives of those affected by pap. Autoimmune pulmonary alveolar proteinosis apap is a rare autoimmune lung disorder. 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. Pulmonary alveolar proteinosis alveolar proteinoses pulmonary. For radiologists, the term pulmonary alveolar proteinosis is misleading because the ct appearance is not purely alveolar. Autoimmune pulmonary alveolar proteinosis genetic and rare. Spontaneous regression of pulmonary alveolar proteinosis.
Lung disease characterized by progressive difficulty breathing dyspnea and cough due to the accumulation of lipoprotein material within the alveoli that impairs ventilation. Pulmonary alveolar proteinosis pap is a lifethreatening lung disorder that affects men, women, and children. Initiallythe goal of treatment for people with pap is symptom relief. Secondary pulmonary alveolar proteinosis spap is an extremely rare disease. Is there a cure for pulmonary alveolar proteinosis. If you have problems viewing pdf files, download the latest version of adobe reader. Pulmonary alveolar proteinosis foundation genetic and rare. Definition pulmonary alveolar proteinosis pap is a rare disease of the lungs. Pulmonary alveolar proteinosis pap is a rare disease of unknown origin, characterized by impaired surfactant metabolism. A recent report suggested that manual ventilation during the second half of the drainage cycle might aid surfactant clearance,97 but this was a single report of an. Pulmonary alveolar proteinosis what is pulmonary alveolar proteinosis pap. Pulmonary alveolar proteinosis pap is a syndrome of reduced gmcsfdependent, macrophagemediated surfactant clearance, dysfunctional foamy alveolar. Pulmonary alveolar proteinosis is an uncommon medical condition, entailing the congestion of alveoli with material containing lipoprotein complexes, produced by type ii alveolar epithelial cells. Air is breathed in through the nasal passageways, travels through the trachea and bronchi to the lungs.
Pap is characterized by abnormal accumulation of pulmonary surfactant in the alveolar space, which impairs gas exchange leading to a severe hypoxemia. Proteinose alveolar pulmonar wikipedia, a enciclopedia livre. There is little or no lung inflammation, and the underlying lung architecture is preserved. Jan 27, 2017 autoimmune pulmonary alveolar proteinosis apap is a rare autoimmune lung disorder. Secondary pulmonary alveolar proteinosis spap is a very rare lung disorder comprising approximately 10% of cases of acquired pap. Pulmonary alveolar proteinosis is accumulation of surfactant in alveoli. Pulmonary alveolar proteinosis linkedin slideshare. Pulmonary alveolar proteinosis statpearls ncbi bookshelf.
Pulmonary alveolar proteinosis pap is a lung disorder which was first described in 1958 by rosen et al. Subsequently, he had a non productive cough, tightness in the thorax, and fatigue and cyanosis which worsened with effort. The radiological detection of pul monary air space consolidation opens up a broad differential diagnosis. Pulmonary alveolar proteinosis navigation for this section.
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. Definitionpulmonary 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. One patient appeared to have coexisting extrinsic allergic alveolitis with secondary pap, an association not previously described. He remained well during the next three months and then experienced the gradual onset of dyspnea on exertion. Pulmonary alveolar proteinosis radiology reference article. 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. Smoking is strongly associated with the condition, and in smokers, there is a recognized male predilection m. Two of the patients conformed to the classical description of idiopathic or primary pap. This blocks air from entering alveoli and oxygen from passing through into the blood, which results in a feeling of breathlessness dyspnea. The patient underwent bilateral sequential wholelung lavage, which resulted in resolution of his symptoms and.
Pulmonary alveolar proteinosis pap was first described in 1958 by samuel h. Elderlyonset hereditary pulmonary alveolar proteinosis and its. Pulmonary alveolar proteinosis, a case report harold stern, md. Three cases of the rare disorder pulmonary alveolar proteinosis pap presented to our unit over the past thirteen years. Pulmonary alveolar proteinosis, whole lung lavage, rare disease, interstitial. Multimedia encyclopedia pulmonary alveolar proteinosis. Pdf pulmonary alveolar proteinosis is a rare but potentially treatable disease, characterized by impaired surfactant metabolism that leads to. In others, it occurs with lung infection or an immune problem. 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. For language access assistance, contact the ncats public information officer. Statin as a novel pharmacotherapy of pulmonary alveolar. It is the most common form 90% of the cases of pulmonary alveolar proteinosis pap.
Pulmonary alveolar proteinosis an overview sciencedirect. Pulmonary alveolar proteinosis pulmonary disorders. Secondary pulmonary alveolar proteinosis in hematologic. It can manifest as an autoimmune, hereditary or secondary medical condition. The course of the disease ranges from spontaneous resolution to respiratory failure. 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. Diagnosis is based on bronchoalveolar lavage, although characteristic xray and laboratory test abnormalities occur. Chest xray demonstrates small acinar opacities mimicking a miliary pattern ct scan of the chest shows widespread bilateral groundglass opacities with superimposed smooth interlobular septal thickening referred to as crazy paving which is seen in. 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 immunophenotypic pro file of gmcsfaa alveolar macrophages is that of a less welldifferentiated cell type, with persisting er. If you have problems viewing pdf files, download the latest. In some patients, residual disease is observed after treatment. Pulmonary alveolar proteinosis, first described by rosen et al in 1958, 1 is a rare pulmonary disease with a worldwide distribution. Since the first report, the pathogenesis of pulmonary alveolar proteinosis pap had been mysterious. Secondary pulmonary alveolar proteinosis complicating.
This disease shows very characteristic morphological. Pathogenesis, presentation, diagnosis, and therapy. Pulmonary alveolar proteinosis uf health, university of. Most cases affect adults between the ages of 2050 years. Lung biopsy is the gold standard for the diagnosis but may not be required.
However, the impact of spap on the prognosis of underlying mds remains unknown. 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. The accumulated substances interfere with the normal gas exchange and expansion of the lungs, ultimately leading to difficulty breathing and a predisposition to. Pulmonary alveolar proteinosis definition of pulmonary. Pulmonary alveolar proteinosis is rare and usually presents in young and middleaged adults 2050 years of age 6,7. Identification of the granulocytemacrophage colonystimulating factor gmcsf as an indispensable mediator of macrophage maturation and surfactant catabolism was the key. 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. 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. Autoimmune pulmonary alveolar proteinosis genetic and. Whole lung lavage is the most effective therapy for pulmonary alveolar pro. 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.
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. Although airspace, interstitial, or groundglass opacities can dominate the ct appearance of pulmonary alveolar proteinosis. Pulmonary alveolar proteinosis information mount sinai. Pulmonary alveolar proteinosis pap is a rare disease characterized by the accumulation of surfactantlike lipoproteinaceous material in the distal air spaces. Pulmonary alveolar proteinosis pap is a rare lung condition. 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. Oct 26, 2018 inhaled gmcsf therapy for autoimmune pulmonary alveolar proteinosis 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. Inhaled gmcsf therapy for autoimmune pulmonary alveolar. Pulmonary alveolar proteinosis pap cleveland clinic. Pulmonary alveolar proteinosis clinical presentation. 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. Abnormal intra alveolar accumulation of floccular lipoproteinaceous material derived from surfactant phospholipids and lipoproteins first diagnosed in 1958 may be congenital2% thymic alymphoplasia idiopathic90% secondary510%.
Pulmonary alveolar proteinosis alveolar proteinoses. However, wll is not standardized and international consensus documents are lacking. The clinical features of spap patients remain to be summarizeds. Pulmonary alveolar proteinosis pap is a rare disorder in which excess surfactant accumulates within pulmonary alveoli, causing cough, progressive dyspnea and respiratory insufficiency. In 1999, we discovered granulocytemacrophage colonystimulating factor gmcsf autoantibody in the blood and lung of idiopathic pap, which consisted 90 % of acquired pap and was later named as autoimmune pap. To make a definitive diagnosis of pulmonary alveolar proteinosis, doctors examine a sample of the fluid from the alveoli. 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 syndrome of reduced gmcsfdependent, macrophagemediated surfactant clearance, dysfunctional foamy alveolar macrophages, alveolar surfactant accumulation, and hypoxemic respiratory failure for which the pathogenetic mechanism is. Pulmonary alveolar proteinosis pap is a rare pulmonary disease. Otsu, japan with csf2raspecific primers additional file 1. 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. It is a syndrome of altered surfactant homeostasis, characterized by accumulation of periodicacidschiffpositive proteinaceous material in the alveoli. Pulmonary alveolar proteinosis pap is a syndrome of reduced gmcsfdependent, macrophagemediated surfactant clearance, dysfunctional foamy alveolar macrophages, alveolar surfactant accumulation. Pulmonary alveolar proteinosis pap is a rare lung disorder characterized by an abnormal accumulation of surfactantderived lipoprotein compounds within the alveoli of the lung.
Proteinose alveolar pulmonar pap proteinose alveolar pulmonar e uma doenca rara na qual um liquido rico em proteinas surfactante enchem os alveolos prejudicando as trocas gasosas. Pulmonary alveolar proteinosis pap is a rare lung disease. Pulmonary alveolar proteinosis pap is a rare disease characterized by excess accumulation of proteinaceous and lipidrich material in the alveolar spaces. Pulmonary alveolar proteinosis a case report by renee m. Pulmonary alveolar proteinosis nord national organization. Aug 07, 2018 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. Pulmonary alveolar proteinosis definition 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 pap is a rare syndrome characterized by the accumulation of surfactant in alveolar macrophages and alveoli. Identification of the granulocytemacrophage colonystimulating factor gmcsf as an indispensable mediator of macrophage maturation and surfactant catabolism was the key discovery. Recently a patient with pulmonary alveolar proteinosis and cerebral nocardiosis was recognized at this center. 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. While the underlying cause of pap is not clearly understoodthe abnormal disease process that causes illness has been identified. Diagnosis is established by bronchoalveolar lavage bal, which has macroscopic milky appearance, and in the presence of typical. The washings are often opaque or milky because the fluid is rich in protein and fats.
Pulmonary alveolar proteinosis pap, also referred to as al. Pap, pulmonary alveolar lipoproteinosis acquired, pap acquired, pulmonary alveolar proteinosis autoimmune, pulmonary alveolar proteinosis acquired, acquired pulmonary alveolar proteinosis congenital pulmonary alveolar proteinosis. Pulmonary alveolar proteinosis is a rare idiopathic lung disease characterized by the accumulation of lipoproteinaceous material within the alveoli, which impairs gas transfer and decreases the ventilationperfusion ratio, and can lead to respiratory failure. This study was performed to evaluate changes in lung abnormalities on serial ct scans performed on the lungs of patients diagnosed with. It is there that gases between the lungs and the blood are exchanged. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Pulmonary alveolar proteinosis is a rare disorder in which lipoproteinaceous material accumulates within alveoli. This pathological finding is diagnostic of pulmonary alveolar proteinosis. Pulmonary alveolar proteinosis foundation genetic and. Hematological disorders are the most common underlying conditions of spap, of which 74% of cases demonstrate myelodysplastic syndrome mds.
Patients pathologically diagnosed with pap and with negative results for antigranulocyte macrophage colony stimulating factor gmcsf autoantibodies from peking union medical college hospital between january 2000 and july 2016. A search of the pathology files was rewarded by the finding of another instance in which pulmonary alveolar proteinosis was associated with nocardiosis. Pulmonary alveolar proteinosis pulmonary disorders merck. Nocardiosis and pulmonary alveolar proteinosis annals of. 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. Whole lung lavage therapy for pulmonary alveolar proteinosis.
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