Granulomatous inflammation of the lung can be a manifestation of different conditions and can be caused by endogenous inflammation or external triggers. A multitude of different genetic mutations can either predispose patients to infections with granuloma-forming pathogens or cause autoinflammatory disorders, both leading to the phenotype of pulmonary granulomatosis. Based on a detailed patient history, physical examination and a diagnostic approach including laboratory workup, pulmonary function tests (PFTs), computed tomography (CT) scans, bronchoscopy with bronchoalveolar lavage (BAL), lung biopsies and specialised microbiological and immunological diagnostics, a correct diagnosis of an underlying cause of pulmonary granulomatosis of genetic origin can be made and appropriate therapy can be initiated. Depending on the underlying disorder, treatment approaches can include antimicrobial therapy, immunosuppression and even haematopoietic stem cell transplantation (HSCT). Patients with immunodeficiencies and autoinflammatory conditions are at the highest risk of developing pulmonary granulomatosis of genetic origin. Here we provide a review on these disorders and discuss pathogenesis, clinical presentation, diagnostic approach and treatment.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9488645 | PMC |
| http://dx.doi.org/10.1183/16000617.0152-2020 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Distribution of Airway Findings in ANCA-Associated Vasculitis: A 20-Year Observational Analysis.
Diagnostics (Basel)
December 2024
Department of Internal Medicine, Division of Rheumatology, Mayo Clinic, Jacksonville, FL 32224, USA.
Pulmonary involvement is commonly observed in anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), presenting with manifestations such as diffuse alveolar hemorrhage, inflammatory infiltrates, pulmonary nodules, and tracheobronchial disease. We aimed to identify distinct subgroups of tracheobronchial disease patterns in patients with anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) using latent class analysis (LCA), and to evaluate their clinical characteristics and outcomes. We conducted a retrospective cohort study using electronic medical records of patients aged >18 years diagnosed with AAV and tracheobronchial disease between 1 January 2002 and 6 September 2022.
View Article and Find Full Text PDFFrom Fibrosis to Granuloma: Drug Induced Systemic Sarcoidosis-Like Reaction After Rituximab in a Patient with Primary Sjögren's Syndrome.
Eur J Case Rep Intern Med
December 2024
Clínica de Medicina, Serviço de Medicina Interna, Centro Hospitalar Universitário de Santo António, Porto, Portugal.
Unlabelled: Sarcoidosis is a multisystemic syndrome characterized by non-caseous granulomatous inflammation, although necrotizing sarcoid granulomatosis is considered part of the spectrum of the disease. Drug induced sarcoidosis-like reaction (DISR) is a systemic granulomatous reaction, which is histopathologically identical to primary sarcoidosis - mostly described after the use of biologics like tumour necrosis factor alpha antagonists but also anti-CD20 (rituximab). The authors present the very rare case of a woman with a primary Sjögren's syndrome (pSS) started on rituximab for disease control, which evolved with a 3-year indolent progressive systemic sarcoid reaction.
View Article and Find Full Text PDFDifferences in Phenotypes, Treatments, and Outcomes of ANCA-associated Vasculitis across Europe, Japan, and the United States in 2020.
Rheumatology (Oxford)
January 2025
Inflammation and Immunology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Objectives: To clarify the differences in clinical phenotypes, therapeutic patterns, and outcomes of patients with granulomatosis with polyangiitis (GPA) and microscopic polyangiitis (MPA) across geographic regions using a multinational cohort.
Methods: Data were collected from patients with newly diagnosed or relapsing GPA or MPA in Europe, Japan, and the United States (US) from January to July 2020. The composite outcome of kidney failure and/or death within 52 weeks after treatment was evaluated, and the hazard ratios across the regions were estimated using the Cox proportional hazard model.
Reclassification of the overlap syndrome of Behçet's disease and antineutrophil cytoplasmic antibody-associated vasculitis in patients with Behçet's disease.
Korean J Intern Med
January 2025
Division of Rheumatology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
Background/aims: This study applied the 2022 American College of Rheumatology/European Alliance of Associations for Rheumatology (ACR/EULAR) criteria for antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) to patients with Behçet's disease (BD) to investigate the proportion and clinical implications of the reclassification to the overlap syndrome of BD and AAV (OS-BD-AAV).
Methods: We included 280 BD patients presenting with ANCA positivity but without medical conditions mimicking AAV at diagnosis. Demographic data, items from the 2014 revised International Criteria for BD and 2022 American College of Rheumatology and European Alliance of Associations for Rheumatology criteria for AAV, ANCA positivity, and laboratory results were recorded as clinical data at diagnosis.
An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic.
Front Pediatr
December 2024
Paediatrics and Paediatric Respirology, National Heart and Lung Institute, Faculty of Medicine, Imperial College London, London, United Kingdom.
Ataxia-telangiectasia (A-T) is an ultrarare autosomal recessive disorder and occurs in all racial and ethnic backgrounds. Clinically, children and young people with A-T are affected by sinopulmonary infections, neurological deterioration with concomitant bulbar dysfunction, increased sensitivity to ionizing radiation, immunodeficiency, a decline in lung function, chronic liver disease, endocrine abnormalities, cutaneous and deep-organ granulomatosis, and early death. Pulmonary complications become more frequent in the second decade of life and are a leading cause of death in individuals with A-T.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!