Skin nodule reveals lung cancer in a patient with granulomatosis with polyangiitis.
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ABSTRACT:
SUBMITTER: Doberstein T
PROVIDER: S-EPMC5538075 | biostudies-other | 2017 Aug
REPOSITORIES: biostudies-other
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Project description:Granulomatosis with polyangiitis (GPA) is characterized by necrotizing granulomatous lesions and is classified as ANCA-associated vasculitis (AAV). We herein report a case of GPA that was remitted by resection of a pulmonary lesion without immunosuppressive therapy. We detected activated neutrophils and neutrophil extracellular traps (NET) formation in resected lung tissue by immunofluorescence. Activated neutrophils and NETs might be involved in the pathophysiology of AAV and induce the vicious cycle of ANCAs and NETs. In cases of GPA with no other severe lesions, the reevaluation of the disease activity after diagnostic resection is crucial for considering the need for immunosuppressive therapy.
| S-EPMC9556222 | biostudies-literature
Project description:Granulomatosis with polyangiitis is an ANCA-associated systemic vasculitis with a low incidence in the pediatric population. Lung involvement is a common manifestation in children affected by granulomatosis with polyangiitis, both at disease's onset and during flares. Its severity is variable, ranging from asymptomatic pulmonary lesions to dramatic life-threatening clinical presentations such as diffuse alveolar haemorrhage. Several radiologic findings have been described, but the most frequent abnormalities detected are nodular lesions and fixed infiltrates. Interstitial involvement, pleural disease and pulmonary embolism are less common. Histology may show necrotizing or granulomatous vasculitis of small arteries and veins of the lung, but since typical features may be patchy, the site for lung biopsy should be carefully chosen with the help of imaging techniques such as computed tomography. Bronchoalveolar lavage is helpful to confirm the diagnosis of alveolar haemorrhage. Pulmonary function tests are frequently altered, showing a reduction in the diffusion capacity for carbon monoxide, which can be associated with obstructive abnormalities related to airway stenosis. Nodular lung lesions tend to regress with immunosuppressive therapy, but lung disease may also require second line treatments such as plasmapheresis. In cases of massive diffuse alveolar haemorrhage, ventilator support is crucial in the management of the patient.
| S-EPMC5391594 | biostudies-literature
Project description:Clinical trials and observational studies have established cyclophosphamide (CY) or rituximab plus glucocorticoid (GC) as standard remission induction therapies in patients with microscopic polyangiitis (MPA) and granulomatosis with polyangiitis (GPA). However, because these regimens are associated with serious adverse drug reactions, the development of drugs with novel mechanisms of actions are needed. Progress in basic and clinical research has identified novel candidate targeting molecules, including B-cell activating factor (BAF), C5a receptor, and interleukin-6. The combination of rituximab and BAF blockade in patients with MPA and GPA is under investigation in an effort to strike a better benefit-risk balance. Phase II clinical trials of avacopan (CCX168), an orally administered C5a receptor antagonist, have suggested a reduction in the dosage of concomitant GC or the replacement of GC in patients with MPA and GPA. The results from a currently ongoing phase III trial are awaited. Anecdotal case reports and an open-label pilot study have indicated the effectiveness of tocilizumab in patients with MPA and GPA. A randomized clinical trial comparing tocilizumab and intravenous CY in combination with GC is currently in progress. Molecular targeted therapy is expected to transform the treatment strategy for MPA and GPA to allow GC-free or at least less GC-dependent forms of therapy.
| S-EPMC6506735 | biostudies-literature
Project description: Not available
| S-EPMC6365307 | biostudies-literature
Project description:BackgroundUtilizing the traditional centers of excellence approach to conduct clinical trials involving rare diseases remains challenging. Patient-based registries have been shown to be both feasible and valid in several other diseases.ObjectiveThis report outlines the clinical characteristics of a large internet registry cohort of participants with a self-reported diagnosis of granulomatosis with polyangiitis or microscopic polyangiitis.MethodsPatients with a self-reported diagnosis of granulomatosis with polyangiitis or microscopic polyangiitis in an internet-based prospective longitudinal cohort (from the Vasculitis Patient-Powered Research Network) were included. Data on symptoms, diagnostic testing, and treatment were collected using standardized questionnaires.ResultsThe study compared patients with granulomatosis with polyangiitis (n=762) and patients with microscopic polyangiitis (n=164). Of the cohort, 97.7% (904/925) reported the diagnosis had been confirmed by a physician. Compared to microscopic polyangiitis, patients with granulomatosis with polyangiitis reported significantly more ear, nose, and throat manifestations (granulomatosis with polyangiitis: 641/723, 88.7%; microscopic polyangiitis: 89/164, 54.3%; z=10.42, P<.001), fevers (granulomatosis with polyangiitis: 325/588, 55.3%; microscopic polyangiitis: 64/139, 46.0%; z=1.96, P=.05), joint involvement (granulomatosis with polyangiitis: 549/688, 79.8%; microscopic polyangiitis: 106/154, 68.8%; z=2.96, P=.003), and pulmonary involvement (granulomatosis with polyangiitis: 523/734, 71.3%; microscopic polyangiitis: 90/154, 58.4%; z=3.13, P=.002). Compared to microscopic polyangiitis, patients with granulomatosis with polyangiitis reported significantly less renal involvement (granulomatosis with polyangiitis: 457/743, 61.5%; microscopic polyangiitis: 135/163, 82.8%; z=-5.18, P<.001) and renal transplantation (granulomatosis with polyangiitis: 10/721, 1.4%; microscopic polyangiitis: 7/164, 4.3%; z=-2.43, P=.02). Antineutrophil cytoplasmic antibody positivity was reported in 94.2% (652/692) of patients with granulomatosis with polyangiitis and 96.1% (147/153) of patients with microscopic polyangiitis. A biopsy showing vasculitis was reported in 77.0% (562/730) of patients with granulomatosis with polyangiitis and 81.9% (131/160) of patients with microscopic polyangiitis.ConclusionsIn this large, internet-based cohort of patients with a self-reported diagnosis of granulomatosis with polyangiitis or microscopic polyangiitis, disease manifestations were consistent with expectations for each type of vasculitis. Given the rarity of these and other vasculitides, conducting some types of research through internet-based registries may provide an efficient alternative to inperson, center-of-excellence clinical trials.
| S-EPMC7428147 | biostudies-literature
Project description:Objectives: To determine whether disease processes related to granulomatosis with polyangiitis (GPA) are reflected in gene expression profiles of nasal mucosa. Methods: Nasal brushings of the inferior turbinate were obtained from 32 patients with GPA (10 with active nasal disease, 13 with prior nasal disease, 9 with no history of nasal disease) and a composite comparator group with and without inflammatory nasal disease (12 healthy people, 15 with sarcoidosis, 8 with allergic rhinitis). Differential gene expression was assessed between subgroups of GPA and comparators. Results: 339 genes were differentially expressed between the GPA and comparator groups (absolute fold change > 1.5; false discovery rate < 0.05). Top canonical pathways upregulated in nasal brushings from patients with GPA include granulocyte adhesion and diapedesis (p=8.6 E-22), agranulocyte adhesion and diapedesis (p=1.3 E-14), interleukin 10 signaling (3.0 E-11), and TREM1 signaling (9.0 E-11). A set of genes differentially expressed in GPA independent of nasal disease activity status included genes related to epithelial barrier integrity (fibronectin 1, desmosomal proteins) and several matricellular proteins (e.g. osteonectin, osteopontin). Significant overlap of differentially expressed genes was observed between active and prior nasal disease GPA subgroups. Peripheral blood neutrophil and mononuclear gene expression levels associated with GPA were similarly altered in the nasal gene expression profiles of patients with active or prior nasal disease. Conclusions: Profiling the nasal transcriptome in GPA reveals gene expression signatures related to innate immunity, inflammatory cell chemotaxis, extracellular matrix composition, and epithelial barrier integrity. Airway-based expression profiling is feasible and informative in GPA.
2018-08-29 | GSE119136 | GEO
Project description:BackgroundCerebral amyloid angiopathy-related inflammation (CAA-ri) defines a subacute autoimmune encephalopathy, which is presumably caused by increased CSF concentrations of anti-Aβ autoantibodies. This autoinflammatory reaction is temporally and regionally associated with microglial activation, inflammation and radiological presence of vasogenic edema. Clinical characteristics include progressive demential development as well as headache and epileptic seizures. In the absence of histopathologic confirmation, the criteria defined by Auriel et al. allow diagnosis of probable resp. possible CAA-ri. CAA-ri shows responsiveness to immunosuppressive therapies and a possible coexistence with other autoinflammatory diseases.MethodsWe present a case report and literature review on the diagnosis of CAA-ri in a patient with known granulomatosis with polyangiitis (GPA).ResultsInitially, the presented patient showed neuropsychiatric abnormalities and latent arm paresis. Due to slight increase in CSF cell count, an initial antiviral therapy was started. MR tomography showed a pronounced frontotemporal edema as well as cerebral microhemorrhages, leading to the diagnosis of CAA-ri. Subsequent high-dose steroid treatment followed by six intravenous cyclophosphamide pulses resulted in decreased CSF cell count and regression of cerebral MRI findings.ConclusionThe symptoms observed in the patient are consistent with previous case reports on CAA-ri. Due to previously known GPA, we considered a cerebral manifestation of this disease as a differential diagnosis. However, absence of pachymeningitis as well as granulomatous infiltrations on imaging made cerebral GPA less likely. An increased risk for Aβ-associated pathologies in systemic rheumatic diseases is discussed variously.
| S-EPMC10666051 | biostudies-literature
Project description: Not available
| S-EPMC7733721 | biostudies-literature
Project description:Vasculitis refers to inflammation of the systemic vessels. Eosinophilic granulomatosis with polyangiitis (EGPA) is a medium and small vessel vasculitis characterized by hypereosinophilia, pulmonary infiltrates, difficult to treat asthma and polyneuropathies. Diagnosis can often be challenging. In this article, we present a case of a young lady who was diagnosed ANCA negative EGPA.
| S-EPMC6446216 | biostudies-literature
Project description:ObjectiveGranulomatosis with polyangiitis is an unusual multisystemic inflammatory disease, with vasculitis of small- and medium-sized vessels, with a predilection for upper lower airways and kidneys. The etiology remains unknown although it may originate from different stimuli, in genetically susceptible patients.Materials and methodsA detailed database search was performed. The variables were demographics, localization, histopathological findings, antineutrophil cytoplasmic autoantibody, cytoplasmic (c-ANCA) tests, treatment, and follow-up.ResultsFifty-two cases were identified; the mean age was 49.6 years, with a range from 6 to 87 years. It was most frequently seen in females (57.7%). The most common race was white (59.6%). The most frequent location was in the maxillary gingiva (28.8%), followed by both the upper and lower gingiva (19.2%). The most common clinical presentation was "strawberry gingivitis" (61.5%). The main symptom was pain, in 50%. Regarding the c-ANCA test, it was positive in 71.2% of cases. The most common therapy was prednisone and cyclophosphamide, utilized in 51.9%. The average follow-up was 23.6 months, and 88.5% of patients were still alive at follow-up.ConclusionThe diagnosis initially was difficult to establish, an early diagnosis and treatment are mandatory. If untreated the disease can be associated with morbidity and mortality. For the oral clinician, this disease needs to be addressed in the differential diagnosis of oral lesions.
| S-EPMC9932239 | biostudies-literature