Management of suspected monogenic lung fibrosis in a specialised centre

Borie, R.; Kannengiesser, Caroline; Fontbrune, Flore Sicre de; Gouya, Laurent; Nathan, Nadia; Crestani, Bruno

doi:10.1183/16000617.0122-2016

Cited by 60 publications

(84 citation statements)

References 121 publications

(197 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In a recent paper from Japan, the prevalence of a histopathological UIP pattern was 83% (90 of 109) in patients with a probable UIP pattern on HRCT, but the diagnosis of IPF after the MDD was made in only 66%. (30) The median survival time was 72.1 months for patients with the probable UIP pattern, very similar to that found in our series. This survival time is longer than that found in patients with IPF and suggests that a heterogeneous number of diagnoses are included in the group with a probable UIP pattern.…”

Section: Discussionsupporting

confidence: 89%

See 1 more Smart Citation

Clinical diagnosis of patients subjected to surgical lung biopsy with a probable usual interstitial pneumonia pattern on high-resolution computed tomography

Tibana

Soares

Storrer

et al. 2020

Preprint

View full text Add to dashboard Cite

Background: Usual interstitial pneumonia (UIP) can present with a probable pattern on high-resolution computed tomography (HRCT), but the probability of UIP by surgical lung biopsy in such cases remains controversial. We aimed to determine the final clinical diagnosis in patients with a probable UIP pattern on HRCT subjected to surgical lung biopsy.Methods: HRCT images were assessed and categorized by three radiologists, and tissue slides were evaluated by two pathologists, all of whom were blinded to the clinical findings. The final clinical diagnosis was accomplished via a multidisciplinary discussion. Patients with a single layer of honeycombing located outside of the lower lobes on HRCT were not excluded.Results: A total of 50 patients were evaluated. The most common final clinical diagnosis was fibrotic hypersensitivity pneumonitis (38.0%; 95% CI: 24.7% to 52.8%), followed by idiopathic pulmonary fibrosis (24.0%; 95% CI: 13.1% to 38.2%) and interstitial lung disease ascribed to gastroesophageal reflux disease (12.0%; 95% CI: 4.5% to 24.3%) and familial interstitial lung disease (10.0%; 95% CI: 3.3% to 21.8%). In the group without environmental exposure (n = 22), 10 patients had a final clinical diagnosis of idiopathic pulmonary fibrosis (45.5%; 95% CI: 24.4% to 67.8%). Irrespective of the final clinical diagnosis, by multivariate Cox analysis, patients with honeycombing, dyspnoea and the presence of fibroblastic foci on surgical lung biopsy had a high risk of death.Conclusions: The most common disease associated with a probable UIP pattern on HRCT is fibrotic hypersensitivity pneumonitis, followed by idiopathic pulmonary fibrosis and interstitial lung disease ascribed to gastroesophageal reflux disease. In patients without environmental exposure, the frequency of UIP and a final clinical diagnosis of idiopathic pulmonary fibrosis are not sufficiently high to obviate the indication for surgical lung biopsy.

show abstract

Section: Discussionsupporting

confidence: 89%

“…(12,29) The indications for SLB in familial ILD remain controversial. (30,31) The likelihood of a histopathological UIP pattern in patients with a probable UIP pattern on HRCT remains unde ned.…”

Section: Discussionmentioning

confidence: 99%

Clinical diagnosis of patients subjected to surgical lung biopsy with a probable usual interstitial pneumonia pattern on high-resolution computed tomography

Tibana

Soares

Storrer

et al. 2020

Preprint

View full text Add to dashboard Cite

show abstract

“…

…”

mentioning

confidence: 99%

Pneumocystosis revealing immunodeficiency secondary toTERCmutation

et al. 2017

Self Cite

View full text Add to dashboard Cite

Telomerase-related gene (TRG) mutations are evidenced in about 25% of patients with familial pulmonary fibrosis, and less frequently in sporadic interstitial lung disease (ILD) [1]. Even though TRG mutations can be associated with haematological, hepatic and cutaneous manifestations, most adult ILD patients with TRG mutations only present asymptomatic extrapulmonary involvement such as thrombocytopenia or premature hair greying [2]. However, some specific extrapulmonary manifestations such as immunodeficiency or portal hypertension can be severe and need early detection. We report herein the case of a patient with primary immunodeficiency revealed by pneumocystosis, which could have been misdiagnosed as an idiopathic acute exacerbation of ILD.A 47-year-old female non-smoker was admitted to our department for acute respiratory insufficiency. Her medical history revealed chronic asymptomatic neutropenia (between 1000 and 1500 mm -3 ), thrombocytopenia (between 100 000 and 150 000 mm -3 ) and a premature occurrence of white hair at the age of 19 years. Apart from her 18-year-old son who with presented thrombocytopenia (<50 000 mm -3 ), neutropenia and splenomegaly without diagnosis, the other members of her family were perfectly healthy.

show abstract

“…ANCA-positive isolated pulmonary fibrosis patients present mostly pulmonary symptoms; dyspnea (50-73%) or cough (21-60%), although hemoptysis (5%), fever (31%), or weight loss (5%) have also been reported. 17,43,45 Although patients with ANCA usually do not present inflammatory syndrome, screening for other autoantibodies is frequently positive: antinuclear antibodies (52%), rheumatoid factor (17%), anti-Scl-70 (11%), or anti-Jo-1 (9%). 60,63,64 The presence of rheumatoid factor at diagnosis could be predictive of future occurrence of MPA in one study.…”

Section: Isolated Anca Positivity With Pulmonary Fibrosismentioning

confidence: 99%

“…This is typically observed in patients with COPA or TMEM173 gene mutations that have been associated with autoimmune disorders and vasculitis. [45][46][47] Moreover, telomere-related gene mutations have been associated with well-defined autoimmune diseases, such as systemic lupus erythematosus, Sjögren's syndrome, or rheumatoid arthritis, 48,49 suggesting that T-lymphocyte dysfunction which is part of the short telomere syndrome 50 may also contribute to the development of pulmonary fibrosis.…”

Section: Introductionmentioning

confidence: 99%

Antineutrophil Cytoplasmic Antibody–Associated Lung Fibrosis

Borie

Crestani

2018

Semin Respir Crit Care Med

Self Cite

View full text Add to dashboard Cite

Pulmonary fibrosis is observed in a substantial number of patients with ANCA-associated vasculitis (AAV), 15% in a recent German series, and may be more frequent in Asian populations. ANCA are usually of anti-MPO specificity and microscopic polyangiitis is the most frequent vasculitis. Pulmonary fibrosis may increase the risk of death in patients with AAV. Treatment for AAV in patients with lung fibrosis should follow the international guidelines for vasculitis. The role of anti-fibrotic drugs (pirfenidone, nintedanib) in this condition is still unknown. Pulmonary fibrosis precedes the diagnosis of AAV or is diagnosed concomitantly in most of the cases. Interestingly, 4% to 35% of patients with pulmonary fibrosis are ANCA-positive, but only 7% to 23% of the patients with pulmonary fibrosis and anti-MPO will develop AAV during follow-up. ANCA positivity may be detected in idiopathic or non idiopathic pulmonary fibrosis. In the absence of vasculitis, the detection of ANCA does not influence the diagnostic work-up of patients with lung fibrosis. If an Idiopathic Pulmonary Fibrosis diagnosis is considered, an anti-fibrotic therapy should be considered, according to local and international guidelines.

show abstract

Management of suspected monogenic lung fibrosis in a specialised centre

Cited by 60 publications

References 121 publications

Clinical diagnosis of patients subjected to surgical lung biopsy with a probable usual interstitial pneumonia pattern on high-resolution computed tomography

Clinical diagnosis of patients subjected to surgical lung biopsy with a probable usual interstitial pneumonia pattern on high-resolution computed tomography

Pneumocystosis revealing immunodeficiency secondary toTERCmutation

Antineutrophil Cytoplasmic Antibody–Associated Lung Fibrosis

Contact Info

Product

Resources

About