Diffuse Interstitial Lung Disease Research Articles

Diagnostic delay of associated interstitial lung disease increases mortality in rheumatoid arthritis

Rheumatoid arthritis (RA) is a systemic autoimmune disease whose main extra-articular organ affected is the lung, sometimes in the form of diffuse interstitial lung disease (ILD) and conditions the prognosis. A multicenter, observational, descriptive and cross-sectional study of consecutive patients diagnosed with RA-ILD. Demographic, analytical, respiratory functional and evolution characteristics were analyzed to evaluate the predictors of progression and mortality. 106 patients were included. The multivariate analysis showed that the diagnostic delay was an independent predictor of mortality (HR 1.11, CI 1.01–1.23, p = 0.035). Also, age (HR 1.33, 95% CI 1.09–1.62, p = 0.0045), DLCO (%) (HR 0.85, 95% CI 0.73–0.98, p = 0.0246), and final SatO2 (%) in the 6MWT (HR 0.62, 95% CI 0.39–0.99, p = 0.0465) were independent predictor variables of mortality, as well as GAP index (HR 4.65, 95% CI 1.59–13.54, p = 0.0051) and CPI index (HR 1.12, 95% CI 1.03–1.22, p = 0.0092). The withdrawal of MTX or LFN after ILD diagnosis was associated with disease progression in the COX analysis (HR 2.18, 95% CI 1.14–4.18, p = 0.019). This is the first study that highlights the diagnostic delay in RA-ILD is associated with an increased mortality just like happens in IPF.

Prevalencia y características clínicas de la enfermedad pulmonar intersticial difusa sintomática en la artritis reumatoide en una población española

Background and objectivesIn Spain, epidemiological studies of the prevalence of diffuse interstitial lung disease (ILD) in rheumatoid arthritis (RA) are limited. Our objective was to estimate the prevalence of symptomatic ILD in RA and its characteristics in our area. Materials and methodsIn our hospital's interdisciplinary rheumatology and pulmonology clinic, a prospective longitudinal observational study was designed in which we included RA with respiratory symptoms and ILD confirmed by high resolution computed tomography. ResultsOf the 2,729 people with RA in our area, 47 had symptomatic ILD, estimating a prevalence of symptomatic ILD in RA of 1.72% (95% CI 1.26 - 2.29) with an age at diagnosis of RA of 57.3±13.3 years. It was more frequent in men, 60.6% had a history of smoking, and 84.3% and 84.7% had rheumatoid factor (RF) and anti-cyclic citrullinated peptide (Anti-CCP) antibodies, respectively. The most frequent pattern was usual interstitial pneumonitis (UIP), appearing in 28 (31.1%). Nonspecific interstitial pneumonia (NSIP) was more frequent in women, while the combined pulmonary fibrosis-emphysema (CPFE) syndrome presented exclusively in men. ConclusionsWe have analysed the prevalence of symptomatic RA-ILD in our area, which is lower than expected, probably in relation to the definitions used. We have also described that the UIP pattern is the most frequent in RA in our environment, followed by the NSIP. Lastly, we have analysed the prevalence of CPFE in RA, which reaches 13%, for the first time.

Bronchoalveolar Lavage Complements Transbronchial Cryobiopsy Diagnosis in Diffuse Interstitial Lung Diseases.

Bronchoalveolar lavage (BAL) is a technique classically used for the study of diffuse interstitial lung diseases (DILDs). Given the recent advances in the diagnosis of DILD by transbronchial cryobiopsy (TBCB), it is relevant to assess what BAL can contribute to TBCB. This is a retrospective descriptive study that included patients with DILD who, between 2013 and 2017, underwent BAL and TBCB in the same bronchoscopy intervention. We evaluated the complementary information provided by BAL to TBCB that facilitated the diagnosis by a multidisciplinary committee. Epidemiological, clinical, and functional variables and high-resolution chest tomography findings were recorded, along with complications associated with the procedures. A total of 60 patients were included. TBCB, conditioned by the underlying radiologic pattern, provided diagnostic information in 75% of cases. BAL provided complementary information that supported the diagnosis and treatment in 22% of cases. Differential BAL findings were related to microbiology, cell count, and immunology. Regarding the safety of the procedure, 47% of the patients experienced complications, although none were serious. BAL findings contribute to TBCB findings in the diagnosis of DILDs, with no serious complications associated with their combined use.

Detection of autoantibodies in bronchoalveolar lavage in patients with diffuse interstitial lung disease

IntroductionSerum autoantibodies support the diagnosis of interstitial lung disease (ILD) related to systemic autoimmune diseases (SAD-ILD). Nevertheless, their presence in the bronchoalveolar lavage (BAL) has not been explored. ObjectivesTo demonstrate the presence of autoantibodies in the BAL of ILD patients at onset of clinical evaluation, its relation with serum autoantibodies and to analyze clinical features of patients with autoantibodies in BAL. MethodsAutoantibodies against extractable nuclear antigens (ENAs) were analyzed by immunoblot in the BAL of 155 patient with suspected diagnosis of ILD and 10 controls. ResultsSeven ENAs were detected in the BAL of 19 patients (Anti-Ro52, Anti-Ro60, CENP-B, Anti-La, Jo-1, Sm/RNP and Anti-SL70). The most frequent ENA was anti-Ro52 (13 patients; 68,4% of positives ones). Seven patients presented more than one ENAs. Fourteen were diagnosed of SAD-ILD, 3 of interstitial pneumonia with autoimmune features, one of non-specific idiopathic pneumonia and other of silicosis. In 10 cases (52%) IgA autoantibodies were also detected. The autoantibodies observed in BAL were also detected in the serum of 17 patients (90%). There were no significant clinical differences with the patients with SAD-ILD or interstitial pneumonia with autoimmune features with patients with negative BAL. ConclusionThe study of ENAs in BAL is feasible and can be a useful tool in the ILD initial algorithm, specifically sustaining the suspected diagnosis of SAD-ILD.

Silicose et hémoptysie

Pneumoconiosis is defined as a diffuse interstitial lung disease secondary to inhalation of mineral particles. Haemoptysis is common in pneumoconiosis. But it is usually secondary to bronchiectasis, bronchitis or pulmonary tuberculosis occurring with silicosis. A 74-year-old Portuguese man, known to have chronic respiratory failure secondary to chronic silicosis, was treated for moderate haemoptysis. CT angiography revealed bilateral fibrosing peri-hilar masses, inferior lobe nodules and previously known mediastinal lymphadenopathy, without active bleeding. Fibreoptic bronchoscopy showed an anthracotic appearance with lesions typical of silicosis on pathological examination of trans-bronchial biopsies and needle aspiration of mediastinal adenopathy by endobronchial ultrasound. After a full aetiological assessment, no cause other than silicosis has been identified. Haemoptysis is frequently observed in silicosis, but it results from silicosis complications. It is not a classic complication of isolated silicosis.

Almonertinib-induced interstitial lung disease: A case report.

Rationale:Epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) have elicited favorable anti-tumor activity in non-small cell lung cancer especially the lung adenocarcinoma. Interstitial lung disease (ILD) is 1 of the fatal side effects of EGFR-TKIs. However, such type of side effect has not been observed in the follow-up during the treatment of the third-generation EGFR-TKI Almonertinib (also called HS-10296). Here, we first report an Almonertinib-induced ILD in an elderly female patient.Patient concerns:A 70-year-old female diagnosed with “ lung adenocarcinoma with intracranial metastasis” harboring a mutation of EGFR 19DEL was administrated with Almonertinib 110 mg orally as the first-line treatment. However, she presented with chest tightness, and shortness of breath, accompanying with paroxysmal dry cough 3 months after the initiation of Almonertinib.Diagnoses:Extensive relevant examinations did not provide conclusive results and the chest computed tomography showed a diffuse ILD in bilateral pulmonary.Interventions:The patient was diagnosed with Almonertinib-induced ILD in the absence of no other potential causes. She discontinued Almonertinib and was treated with oxygen uptaken and methylprednisolone.Outcomes:The whole symptoms were eliminated and the chest computed tomography showed ILD got remission after the prescription of methylprednisolone.Lessons:Almonertinib has potential to cause the rare but severe interstitial lung disease. Clinicians should keep cautious of this when prescribing Almonertinib.

Uniportal surgical biopsy, without orotraqueal intubation, without thoracic drainage in intersticial pulmonary disease: initial results.

interstitial lung disease comprises a group of lung diseases with wide pathophysiological varieties. This paper aims to report the video thoracoscopic surgical biopsy in patients with interstitial lung disease through a single minimal chest incision, without orotracheal intubation, without chest drainage, and without the use of neuromuscular blockers. this study is a series of 14 cases evaluated retrospectively, descriptively, where patients underwent a pulmonary surgical biopsy from January 2019 to January 2020. The patients included in the study had diffuse interstitial lung disease without a defined etiological diagnosis. none of the patients had transoperative complications, there was no need for chest drainage in the postoperative period, and the patients pain, assessed using the verbal scale, had a mode of 2 (minimum value of 1 and maximum of 4) in the post immediate surgery and 1 (minimum value of 1 and maximum of 3) at the time of hospital discharge. The length of hospital stay was up to 24 hours, with 12 patients being discharged on the same day of hospitalization. therefore, it is concluded in this series of cases that the performance of uniportal video-assisted thoracoscopic surgery procedures to perform lung biopsies, without orotracheal intubation, without chest drainage, and without the use of neuromuscular blockers, bring benefits to the patient without compromising his safety. Further larger studies are necessary to confirm the safety and efficiency of this method.

Biomarkers for interstitial lung disease and acute-onset diffuse interstitial lung disease in rheumatoid arthritis.

Interstitial lung disease (ILD) is frequently a complication of rheumatoid arthritis (RA) as an extra-articular manifestation which has a poor prognosis. Acute-onset diffuse ILD (AoDILD) occasionally occurs in RA and includes acute exacerbation of ILD, drug-induced ILD, and Pneumocystis pneumonia. AoDILD also confers a poor prognosis in RA. Previously-established biomarkers for ILD include Krebs von den lungen-6 and surfactant protein-D originally defined in patients with idiopathic pulmonary fibrosis; the sensitivity of these markers for RA-associated ILD (RA-ILD) is low. Although many studies on ILD markers have been performed in idiopathic pulmonary fibrosis, only a few validation studies in RA-ILD or AoDILD have been reported. Biomarkers for RA-ILD and AoDILD are thus still required. Recently, genomic, cytokine, antibody, and metabolomic profiles of RA-ILD or AoDILD have been investigated with the aim of improving biomarkers. In this review, we summarize current preliminary data on these potential biomarkers for RA-ILD or AoDILD. The development of biomarkers on RA-ILD has only just begun. When validated, such candidate biomarkers will provide valuable information on pathogenesis, prognosis, and drug responses in RA-ILD in future.

Interstitial lung disease in infancy and early childhood

Diffuse, interstitielle Lungenerkrankungen (ILD) des Säuglings- und Kindesalters (chILD) zeigen ein vom Erwachsenenalter deutlich abweichendes Krankheitsspektrum. Die etablierten Klassifikationen trennen dabei zwischen für das frühe Kindesalter typischen ILD und ILD ohne spezifischen Bezug zum Kindesalter. Die Einordnung beruht dabei auf einer synoptischen Betrachtung der Befunde von Klinik, Bildgebung, Genetik und Pathologie. Eine Lungenbiopsie wird in der Regel eingesetzt, um eine spezifische chILD-Diagnose bei bislang unklarem Befund zu erheben oder eine rasch progrediente Lungensymptomatik bzw. einen prolongierten Symptomverlauf abzuklären. Da auch Pathologen außerhalb von Referenzzentren mit pädiatrischen Lungenbefunden konfrontiert werden, stellt diese Übersicht relevante klinische und morphologische Befunde charakteristischer chILD vor.

Systematic review of the impact of drugs on diffuse interstitial lung disease associated with rheumatoid arthritis

ObjectiveTo review the available evidence on the impact of rheumatoid arthritis (RA) treatments in associated diffuse interstitial lung disease (ILD). MethodsSystematic review of studies evaluating the impact of pharmacological treatment in patients with RA and ILD. A bibliographic search in MEDLINE, EMBASE and Cochrane, a selection of articles and the methodological quality assessment (FLC 3.0 OSTEBA) and grading of the level of evidence (SING) of the selected articles were performed. Results1,720 references were identified in primary search and 7 in manual or indirect. Forty-three articles were included: 7 systematic reviews, 2 randomized clinical trials, 5 cohort studies, 8 case-control studies and 21 case series. Methotrexate (MTX) and leflunomide (LEF) do not increase incidence, complications or mortality due to ILD. Although the results are not uniform, anti-TNF have often had worse outcomes in incidence, progression and mortality due to ILD than MTX, LEF, abatacept (ABA) and rituximab (RTX). The evidence found is scarce for JAK kinase and antifibrotic inhibitors, and controversial for IL-6 inhibitors. ConclusionsThere is no evidence that MTX or LEF worsens the prognosis of patients with AR-EPID. RTX and ABA seem to have better results than other biologicals, such us TNFi, often achieving stabilization and, in some cases, the improvement of ILD in patients with RA.

Human menstrual blood-derived stem cells mitigate bleomycin-induced pulmonary fibrosis through anti-apoptosis and anti-inflammatory effects

BackgroundIdiopathic pulmonary fibrosis is a kind of diffuse interstitial lung disease, the pathogenesis of which is unclear, and there is currently a lack of good treatment to improve the survival rate. Human menstrual blood-derived mesenchymal stem cells (MenSCs) have shown great potential in regenerative medicine. This study aimed to explore the therapeutic potential of MenSCs for bleomycin-induced pulmonary fibrosis.MethodsWe investigated the transplantation of MenSCs in a pulmonary fibrosis mouse model induced by BLM. Mouse was divided into three groups: control group, BLM group, MenSC group. Twenty-one days after MenSC transplantation, we examined collagen content, pathological, fibrosis area in the lung tissue, and the level of inflammatory factors of serum. RNA sequence was used to examine the differential expressed gene between three groups. Transwell coculture experiments were further used to examine the function of MenSCs to MLE-12 cells and mouse lung fibroblasts (MLFs) in vitro.ResultsWe observed that transplantation of MenSCs significantly improves pulmonary fibrosis mouse through evaluations of pathological lesions, collagen deposition, and inflammation. Transwell coculturing experiments showed that MenSCs suppress the proliferation and the differentiation of MLFs and inhibit the apoptosis of MLE-12 cells. Furthermore, antibody array results demonstrated that MenSCs inhibit the apoptosis of MLE-12 cells by suppressing the expression of inflammatory-related cytokines, including RANTES, Eotaxin, GM-CSF, MIP-1γ, MCP-5, CCL1, and GITR.ConclusionsCollectively, our results suggested MenSCs have a great potential in the treatment of pulmonary fibrosis, and cytokines revealed in antibody array are expected to become the target of future therapy of MenSCs in clinical treatment of pulmonary fibrosis.

English

BACKGROUND Diffuse interstitial lung disease is on the rise in recent times. This could be attributed to number of causes / reasons. Environmental pollution is one of the important causes for the upswing. Increased exposure to inorganic dust, toxic fumes, certain drugs (gold, amiodarone, antibiotics etc.) and radiation can also cause ILD (Interstitial Lung Disease). METHODS This is a hospital based prospective observational study, conducted in the Department of Radiodiagnosis, NSCB Medical College and Hospital, Jabalpur. This study comprised of a total of 50 patients clinically diagnosed interstitial lung disease who had undergone x-ray chest and HRCT (High-Resolution Computed Tomography) Chest examination. RESULTS Incidence of interstitial lung disease was maximum in the middle age group of 51 – 60 years (38 %) with male predominance (58 %). Smoking habit was seen to be associated with 52 % of the cases suggesting association. 8 patients (16 %) had developed diffuse lung disease secondary to connective tissue disorder (rheumatoid arthritis, progressive systemic sclerosis and polymyositis). A confident diagnosis was made on the basis of chest radiograph alone in 11 patients (29 %). Among cases evaluated by HRCT Chest, 41 (82 %) cases showed specific patterns of ILD and nine cases (18 %) showed nonspecific patterns and were classified under unclassified IIP (Idiopathic Interstitial Pneumonia). Out of 41 cases, the most common ILD reported was IPF (20) followed by cases of idiopathic NSI, 8 cases of collagen vascular diseases, 2 cases suggestive of COP / BOOP, and smoking related ILDs were seen in 4 cases, and 2 cases of sarcoidosis were seen in the study. Occupational- and radiation-induced-ILD were seen in one case each. CONCLUSIONS Chest radiography is the initial imaging investigation in the evaluation of diffuse interstitial lung disease. HRCT is the imaging modality of choice to assess interstitial lung disease. It can detect lesion even when the chest radiograph is normal. HRCT can confirm the location, extent of disease, and pattern of disease. HRCT helps in the confident diagnosis of ILD as compared to chest radiography. Thus, it avoids lung biopsy in a large number of patients. HRCT is also useful in assessing the disease reversibility. Follow up of patients is better done by HRCT. KEYWORDS HRCT, Interstitial Lung Disease, Chest X-Ray, Ground Glass Opacity, Honeycombing

Content-Based Image Retrieval of Chest CT with Convolutional Neural Network for Diffuse Interstitial Lung Disease: Performance Assessment in Three Major Idiopathic Interstitial Pneumonias.

ObjectiveTo assess the performance of content-based image retrieval (CBIR) of chest CT for diffuse interstitial lung disease (DILD).Materials and MethodsThe database was comprised by 246 pairs of chest CTs (initial and follow-up CTs within two years) from 246 patients with usual interstitial pneumonia (UIP, n = 100), nonspecific interstitial pneumonia (NSIP, n = 101), and cryptogenic organic pneumonia (COP, n = 45). Sixty cases (30-UIP, 20-NSIP, and 10-COP) were selected as the queries. The CBIR retrieved five similar CTs as a query from the database by comparing six image patterns (honeycombing, reticular opacity, emphysema, ground-glass opacity, consolidation and normal lung) of DILD, which were automatically quantified and classified by a convolutional neural network. We assessed the rates of retrieving the same pairs of query CTs, and the number of CTs with the same disease class as query CTs in top 1–5 retrievals. Chest radiologists evaluated the similarity between retrieved CTs and queries using a 5-scale grading system (5-almost identical; 4-same disease; 3-likelihood of same disease is half; 2-likely different; and 1-different disease).ResultsThe rate of retrieving the same pairs of query CTs in top 1 retrieval was 61.7% (37/60) and in top 1–5 retrievals was 81.7% (49/60). The CBIR retrieved the same pairs of query CTs more in UIP compared to NSIP and COP (p = 0.008 and 0.002). On average, it retrieved 4.17 of five similar CTs from the same disease class. Radiologists rated 71.3% to 73.0% of the retrieved CTs with a similarity score of 4 or 5.ConclusionThe proposed CBIR system showed good performance for retrieving chest CTs showing similar patterns for DILD.

EP23 Symptomatic sarcoid myopathy: a rare extra-pulmonary manifestation of sarcoidosis

EP23 Symptomatic sarcoid myopathy: a rare extra-pulmonary manifestation of sarcoidosis

Systematic Review of the Impact of Drugs on Diffuse Interstitial Lung Disease Associated with Rheumatoid Arthritis.

To review the available evidence on the impact of rheumatoid arthritis (RA) treatments in associated diffuse interstitial lung disease (ILD). Systematic review of studies evaluating the impact of pharmacological treatment in patients with RA and ILD. A bibliographic search in MEDLINE, EMBASE and Cochrane, a selection of articles and the methodological quality assessment (FLC 3.0 OSTEBA) and grading of the level of evidence (SING) of the selected articles were performed. 1,720 references were identified in primary search and 7 in manual or indirect. Forty-three articles were included: 7 systematic reviews, 2 randomized clinical trials, 5 cohort studies, 8 case-control studies and 21 case series. Methotrexate (MTX) and leflunomide (LEF) do not increase incidence, complications or mortality due to ILD. Although the results are not uniform, anti-TNF have often had worse outcomes in incidence, progression and mortality due to ILD than MTX, LEF, abatacept (ABA) and rituximab (RTX). The evidence found is scarce for JAK kinase and antifibrotic inhibitors, and controversial for IL-6 inhibitors. There is no evidence that MTX or LEF worsens the prognosis of patients with AR-EPID. RTX and ABA seem to have better results than other biologicals, such as anti-TNF, often achieving stabilization and, in some cases, the improvement of ILD in patients with RA.

Sputum quantitative cytometry in patients with interstitial lung disease and chronic cough

BackgroundChronic cough frequently occurs in patients with diffuse interstitial lung diseases (ILDs), and can have negative effects on quality-of-life. While there are multiple possible contributors to cough in this setting, the contribution and consequences of airway inflammation have not been previously measured. We aimed to estimate the prevalence of airway cellular inflammation in patients with chronic cough and ILD, and examine the interaction between airway inflammation and changes in lung function. MethodsWe examined all patients with physician-diagnosed ILD and chronic cough who had sputum quantitative cytometry ordered between 2004 and 2018. The prevalence of airway inflammation was estimated by applying previously established criteria for bronchitis. FEV1 and FVC were compared between individuals based on the presence of airway inflammation. The changes in FEV1 and FVC were compared between individuals who had their treatment tailored to their sputum result, and those who did not. ResultsAirway inflammation was present in 50% of patients (n = 173), and was associated with lower FEV1 (1.87 vs 2.05 L, p = 0.043) and FVC (2.39 vs 2.71, p = 0.024). Sputum-guided management of airway eosinophilia was associated with improvements in FEV1 (+120 vs −205mL, p < 0.0001) and stability of FVC (+13 vs −284mL, p = 0.003). ConclusionsAirway inflammation is common in patients with chronic cough and ILD, and its presence may negatively affect lung function. Further research is required to understand if there is a role for quantitative sputum cytometry in this population, particularly if sputum-guided management of airway inflammation could lead to improvements in cough and other ILD outcomes.

Questions and Answers on Smoking in Patients with Diffuse ILD. Use of PICO Methodology

IntroductionThe Smoking and the Diffuse Interstitial Lung Diseases (ILD) groups of ALAT and SEPAR collaborated in the preparation of this document. Materials and methodsThis document uses PICO methodology to answer various questions on the relationship between tobacco use and diffuse ILD. Results and conclusionsThe main recommendations are: (a) moderate level of evidence and strong recommendation to consider smoking as a risk factor for the development and/or modification of the progression of diffuse ILD; (b) moderate level of evidence to identify an increase in mortality in diffuse ILD, irrespective of histologic pattern. Low evidence for ascribing it to smoking and strong recommendation for the early identification of patients with diffuse ILD. Further studies are needed to evaluate the effect of smoking cessation in patients with diffuse ILD; (c) low level of evidence and weak recommendation for defining the impact of passive smoking in diffuse ILD; (d) low level of evidence to demonstrate that smoking cessation improves the outcomes of patients diagnosed with diffuse ILD and strong recommendation to advise smoking cessation in smokers with diffuse ILD, and (e) low level of evidence to support the clinical or epidemiological usefulness of active case finding for diffuse ILD in smoking cessation programs, and strong recommendation justifying the performance of spirometry in active case finding, based not on current smoking status, but on previous accumulated consumption, even in asymptomatic cases.

A Novel Non-Sense Mutation in a Senegalese Patient with Hermansky-Pudlak Type 1 Syndrome

Hermansky-Pudlak syndrome (HPS) is a rare inherited multisystem disorder characterized by oculocutaneous albinism and diathesis, and in some patients with pulmonary fibrosis. It is caused by defective biogenesis and trafficking of lysosome-related organelles. Genetically HPS is heterogeneous, and ten loci have been identified as causative genes. The majority of these genes encode subunits of multi-protein complexes named biogenesis of lysosomes-related organelles complex. Mutations within HPS1 and HPS4 genes lead to pulmonary fibrosis in HPS type1 and type 4 patients respectively and are the leading cause of mortality. A 14 years Senegalese boy who was initially diagnosed with oculocutaneous albinism was recruited with his father after informed consent for genetic analysis. In his clinical history, there was no bleeding tendency or clinical episodes of hemorrhagic diathesis. One of his sisters had albinism and died from lung complications at the age of 15 years. The patient was referred to the pneumology department of Fann Hospital in Dakar for further explorations. The high-resolution computed tomography (HRCT) scans of the lungs revealed no evidence of diffuse interstitial lung disease, pleuropericardial effusion, bronchiectasis, pulmonary hypertension, intra pulmonary/mediastinal mass or lymphadenopathy. Mutation screening by Albinism NGS panel identified a homozygous mutation located in exon 6 of the HPS1 gene, c.421C>T (p.Gln141*), in the Proband while his father showed heterozygosity for this mutation. The parents of the proband are not consanguineous and this may suggest a common allele of HPS1 among Senegalese people. Patients with oculocutaneous albinism should therefore be evaluated for Hermansky-Pudlak syndrome by mutational screening within the ten HPS genes.

A retrospective study on the clinical characteristics and radiological features of primary pulmonary lymphoma.

BackgroundThe retrospective study was mainly performed to determine the clinical symptoms and radiological characteristics of primary pulmonary lymphoma (PPL) to improve the recognition and diagnosis of the disease.MethodsBetween June 2007 and June 2019, the clinical data and radiological images of the 16 patients with PPL confirmed by pathology were retrospectively analyzed.ResultsAmong the 16 patients with PPL (6 males and 10 females, aged 32 to 72 years, with a median age of 55.13 years), 9 patients were mucosa-associated lymphoid tissue lymphoma (MALT) and 7 patients were diffuse large B-cell lymphoma (DLBCL); all of the patients did not suffer from autoimmune disease [such as rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), or Sjogren’s syndrome (SSS)]; and 11 patients had a long-term smoking history from 10 to 40 years. The common clinical symptoms were as follows: chest discomfort (n=8), cough (n=10), chest pain (n=7), fever (n=6), apnea (n=1), fatigue (n=4) and weight loss (n=3), however, 6 cases did not show clear symptoms at the time of diagnosis. Blood tests revealed anemia (n=6), thrombocytopenia (n=2), lactate dehydrogenase (LDH) level (n=7), C-reactive protein (CRP) (n=9), erythrocyte sedimentation rate (ESR) (n=8) and no tumor-related indexes were detected abnormal. The chest radiological images showed a total of 8 cases with multiple masses, 2 cases with different types of nodes, 4 cases with patchy infiltration or consolidation shadow, with or without an air bronchogram, and 2 cases with a mixed manifestation. All the lesions were only involved in unilateral lung (13 right, 3 left), none of them located on bilateral lung fields. At the time of admission, the patients were misdiagnosed as lung cancer (n=9), pneumonia (n=5), tuberculosis (n=1), and diffuse interstitial lung disease (n=1). Then final pathological diagnosis was confirmed by surgery (n=9), percutaneous lung biopsy (n=5), and bronchoscopic biopsy (n=2).ConclusionsPPL is a rare disease, though clinical symptoms and radiological characteristics are not typical, they serve as significant clues for the diagnosis and differential diagnosis. Accurate diagnosis mainly depends on histopathological examination, however, conducting a retrospectively study could improve and enrich our knowledge to the disease and reduce inappropriate treatments.

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