Jan 27, 2017 autoimmune pulmonary alveolar proteinosis apap is a rare autoimmune lung disorder. Initial reports of this disease described it as respiratory failure secondary to over production of surfactant proteins within the alveoli 2. The efficacy of wholelung lavage wll as the treatment of pap had never been evaluated in the iranian population. One worker with pulmonary alveolar proteinosis was tested for autoantibodies to granulocytemacrophage colonystimulating factor gmcsf and found to have an elevated level 52. Pulmonary alveolar proteinosis pap is a rare syndrome characterized by pulmonary surfactant accumulation within the alveolar spaces. Pulmonary alveolar proteinosis nord national organization. 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. Viral pneumonia and pulmonary alveolar proteinosis. They are located sparsely on the respiratory bronchioles, line the walls of the alveolar ducts, and are more numerous in the blindended alveolar sacs. 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. 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 was first described by rosen et al. The typical lesion consists of a deposition of paspositive protein material which is present within the alveolar sacs and is not accompanied by extensive fibrosis of the. Pulmonary alveolar proteinosis pulmonary disorders msd.
Pulmonary alveolar proteinosis is rare and usually presents in young and middleaged adults 2050 years of age 6,7. The association of nocardiosis and pulmonary alveolar. This leads to impaired gas exchange and arterial hypoxemia of varying degrees. Pulmonary alveolar proteinosis pap is a rare syndrome characterized by the intraalveolar accumulation of surfactant lipids and proteins. Based on several case reports and series, the peak incidence of pap is between 30 and 40 years and it predominantly. A 53 year old negro man was admitted to the orange memorial hospital on january, 1958. Physiologic and clinical aspects of pulmonary alveolar proteinosis. Whole lung lavage under general anesthesia in a child with pulmonary alveolar proteinosis a case report. Pulmonary alveolar proteinosis european respiratory society. Pulmonary alveolar proteinosis pap characterized by abnormal alveolar filling with surfactants, floccular material and interferes with gas exchange is a rare lung disease. The accumulated substances interfere with the normal gas exchange and expansion of the lungs, ultimately leading to difficulty breathing and a predisposition to.
Novel insights from an animal model aided the discovery of granulocyte macrophage colony stimulating factor gmcsf antibodies as a pathogenetic mechanism in. Pulmonary alveolar proteinosis pap is a rare lung disorder characterized by an abnormal accumulation of surfactant derived lipoprotein compounds within the alveoli of the lung. Pulmonary alveolar proteinosis pap is a rare disorder of the lung caused by impaired surfactant homeostasis and is clinically characterized by the accumulation of lipoproteinaceous material within alveolar spaces, often leading to respiratory failure. Pulmonary alveolar proteinosis in a cat bmc veterinary. Patients with alveolar proteinosis appear to have an increased susceptibility to pulmonary infections caused by a variety of organisms 1, 3, 15, 17, 18, 2124, 27, 34, 37. Focal pulmonary alveolar proteinosis in pulmonary tuberculosis. 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. The pap foundation is a nonprofit patient advocacy organization dedicated to finding a cure and to improving the lives of those affected by pap. Pulmonary alveolar proteinosis pap cleveland clinic. Pulmonary alveolar proteinosis pap, first described in 1958, is a rare condition affecting the lungs, characterized by defects in surfactant clearance by alveolar macro phages. Pulmonary alveolar proteinosis pap is a syndrome characterized by respiratory failure caused by pulmonary surfactant accumulation 9, 10, which can be grouped into distinct categories based on clinical, histopathologic, biochemical, and genetic data 1, 912.
Fluid is then collected by gravity after opening the outflow tube. Pulmonary alveolar proteinosis list of high impact. Proteinose alveolar pulmonar wikipedia, a enciclopedia livre. Familial pulmonary alveolar proteinosis caused by mutations. Pulmonary alveolar proteinosis annals of internal medicine. Pap rarely may be associated with considerable interstitial pulmonary fibrosis 37. It is a heterogeneous group of conditions and characterized by deposition of a large amount of phospholipoproteinaceous material in the alveoli.
Atypical image of pulmonary alveolar proteinosis a case. Pulmonary alveolar proteinosis pap is a rare lung condition. Pulmonary alveolar proteinosis pap is a term defining an ultrarare group of disorders characterised by a perturbation in surfactant homeostasis, resulting in its accumulation within airspaces and impaired gas transfer. Pulmonary alveolar proteinosis an overview sciencedirect. 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. Whole lung lavage of nine children with pulmonary alveolar proteinosis.
Pulmonary alveolar proteinosis is most often idiopathic and occurs in otherwise healthy men and women between 30 and 50 years. Through advocacy and collaboration, we promote research on pap and provide information. Lung alveoli are found in the acini at the beginning of the respiratory zone. Granulocytemacrophage colonystimulating factor, pulmonary alveolar proteinosis, surfactant p ulmonary alveolar proteinosis pap was first described by rosen et al. Aerosol granulocytemacrophage colony stimulating factor. 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 information mount sinai. Two forms are primary and secondary caused by lung infections, hematologic malignancies, inhalation of mineral dusts, silica, titanium oxide, aluminium and insecticides. Pulmonary alveolar proteinosis pap is a very rare lung disease and its prevalence and incidence remain unclear. It occurs when surfactant builds up in your lungs and clogs your air sacs, or alveoli. 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 pap is a syndrome of surfactant accumulation, respiratory failure, and innate immune deficiency for which therapy remains limited to whole lung lavage wll, an invasive physical procedure to remove surfactant unavailable at most medical centers. Pap can affect all ages and sexes and shows diverse clinical courses, ranging from spontaneous resolution to respiratory insufficiency 1, 2. Pulmonary alveolar proteinosis pap is an extremely rare disease characterized by progressive accumulation of surfactant in the alveoli.
A new pathological entity has appeared in the literature to which the name of pulmonary alveolar proteinosis has been applied. Pulmonary alveolar proteinosis pap is a rare disease in the field of pulmonary medicine. Air is breathed in through the nasal passageways, travels through the trachea and bronchi to the lungs. Absence of hilar or paratracheal adenopathy and of significant cardiac enlargement is note worthy. Pulmonary alveolar proteinosis, a rare lung disease, is caused by a buildup of material in the air sacs. The incidence in humans is up to 6 cases per 1,000,000 people. 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. 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. There is little or no lung inflammation, and the underlying lung architecture is preserved. Report of a case with application of a special sputum examination as an aid to diagnosis.
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 rare disease in which a type of protein builds up in the air sacs alveoli of the lungs, making breathing difficult. The diagnosis was thought to be either the hammanrich syndrome, alveolar cell carcinoma, or alveolar proteinosis, with the first of these considered as most likely. Pulmonary alveolar proteinosis new england journal. Pulmonary alveolar proteinosis pulmonary disorders merck.
The changes in the skin and optic fundus were considered to be caused by the polycythemia. Both workers with pulmonary alveolar proteinosis had indium detected in lung tissue specimens. The three main causes of pap are autoimmune, congenital, and secondary. Pulmonary alveolar proteinosis is a very rare interstitial lung disease caused by abnormal intraalveolar surfactant accumulation. Pulmonary alveolar proteinosis radiology reference article. Most cases affect adults between the ages of 2050 years. Smoking is strongly associated with the condition, and in smokers, there is a recognized male predilection m. This blocks air from entering alveoli and oxygen from passing through into the blood, which results in a feeling of breathlessness dyspnea. Autoimmune pulmonary alveolar proteinosis genetic and rare. In this report we provide data from a cohort of pap patients n 81 followed for more than two decades at the san matteo university hospital of pavia, italy. Autoimmune pulmonary alveolar proteinosis apap is a rare autoimmune lung disorder. Advances in the treatment of pulmonary alveolar proteinosis.
Pulmonary alveolar proteinosis pap is a rare disease in children, characterized by intra alveolar accumulation of large amounts of surfactant proteins, which severely reduce gas exchange. Usually, it appears as a crazypaving pattern on highresolution computed tomography. Pulmonary alveolar proteinosis a case report by renee m. Pulmonary alveolar proteinosis pap is a rare disease characterized by excess accumulation of proteinaceous and lipidrich material in the alveolar spaces.
It is the most common form 90% of the cases of pulmonary alveolar proteinosis pap. Pulmonary alveolar proteinosis caused by deletion of the gm. An elevenyear retrospective crosssectional study on. 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. Pulmonary alveolar proteinosis msd manual professional edition. 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. Therefore, there is a real need to investigate the characteristics of pap and also to evaluate the efficacy of wll in this rare disease. Pulmonary alveolar proteinosis pap american thoracic society. The radiologic differential diagnosis of crazypaving includes pulmonary edema, pneumonia, alveolar hemorrhage, diffuse alveolar damage, and lymphangitic.
The washings are often opaque or milky because the fluid is rich in protein and fats. Oct 27, 2008 pulmonary alveolar proteinosis pap is a rare disorder of the lung caused by impaired surfactant homeostasis and is clinically characterized by the accumulation of lipoproteinaceous material within alveolar spaces, often leading to respiratory failure. Definition pulmonary alveolar proteinosis pap is a rare disease of the lungs. Autoimmune pulmonary alveolar proteinosis apap is a rare autoimmune. Pulmonary alveolar proteinosis definition of pulmonary. Nevertheless, the frequent association of nocardiosis and pulmonary alveolar proteinosis 1, 15, 21, 27, 34, each a relatively uncommon disease, warrants further emphasis. Primary pap occurs when gmcsf signaling is disrupted, for example in individuals with high levels of gmcsf autoantibodies, which. Rare secondary forms occur in patients with acute silicosis, pneumocystis jirovecii infection, hematologic cancers, or immunosuppression by drugs and in patients with significant inhalation exposures to aluminum. Though there are a few canine case reports of pap 24, to the best of our.
Pulmonary alveolar proteinosis pap is a rare syndrome characterized by the intra alveolar accumulation of surfactant lipids and proteins. Pulmonary alveolar proteinosis rsna publications online. Pulmonary alveolar proteinosis pap is a lifethreatening lung disorder that affects men, women, and children. Novel insights from an animal model aided the discovery of granulocyte macrophage colony stimulating factor gmcsf antibodies as a pathogenetic mechanism. Autoimmune pulmonary alveolar proteinosis genetic and. It happens most often in people in the age range of 30 to 60 years. Pulmonary alveolar proteinosis caused by deletion of the. Pulmonary alveolar proteinosis pap is a diffuse lung disease that results from the accumulation of lipoproteinaceous material in the alveoli. 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. Over ninety percent of people with pap have the autoimmune. Pulmonary alveolar proteinosis pap is a rare lung disease characterized by the accumulation of amorphous lipoproteinaceous material in the distal air spaces due to defective surfactant clearance by alveolar macrophages.
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. Pioglitazone therapy of autoimmune pulmonary alveolar. Pulmonary alveolar proteinosis in adults the lancet. Pulmonary alveolar proteinosis statpearls ncbi bookshelf. The vast majority of pulmonary alveolar proteinosis occurs as an autoimmune disease. Alveolar proteinosis jama internal medicine jama network.
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 pulmonary disorders. 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 msd manual consumer version. An open forum for patients, doctors and the entire pap community to connect and have discussions. Pulmonary alveolar proteinosis pap is a rare lung disease in animals and humans. Pulmonary alveolar proteinosis is a rare disease characterised by excessive accumulation of surfactant components in the alveoli and the distal airways with minimum inflammatory reaction and. Pulmonary alveolar proteinosis pap is a rare syndrome characterized by the accumulation of surfactant in alveolar macrophages and alveoli.
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