Introduction: Alpha-1 antitrypsin deficiency (AATD) is a genetic condition caused by SERPINA1 variants with variable severity. Current international guidelines do not recommend augmentation therapy for intermediate AATD; nevertheless, some patients show clinically severe phenotypes in real-world practice. We aimed to evaluate, in an exploratory manner, the potential effects of augmentation therapy on exacerbations, quality of life, and lung function in this subgroup. Methods: In this multicenter retrospective study, we included 27 heterozygous patients with intermediate AATD (serum AAT 50–110 mg/dL), Chronic Obstructive Pulmonary Disease (COPD), and/or emphysema. Clinical phenotypes included emphysema-predominant disease, COPD with frequent exacerbations, and overlap with bronchiectasis/asthma; HRCT patterns were recorded. We assessed the annual number of exacerbations (moderate: steroids/antibiotics; severe: hospitalization/including pneumothorax), St. George’s Respiratory Questionnaire (SGRQ), and lung function before and after 12 months of therapy. Results: Augmentation therapy was associated with a reduction in annual exacerbations from a median (IQR) of 2 (1.5–3) to 1 (0–1) (p < 0.0001) and an improvement in SGRQ total score (58.89 ± 16.83 to 48.34 ± 21.20; p = 0.0039). The mean SGRQ change exceeded the 4-point MCID for COPD. No significant changes were observed in spirometry or Diffusing Capacity of the Lung for Carbon Monoxide (DLCO). Conclusions: These exploratory findings suggest that augmentation therapy may reduce exacerbations and improve quality of life in selected patients with intermediate AATD and COPD/emphysema. Given the retrospective design, small sample, and lack of a control group, the results should be interpreted as hypothesis-generating and warrant confirmation in prospective studies.

Polymyositis and dermatomyositis are autoimmune idiopathic systemic inflammatory diseases, characterized by various degrees of muscle inflammation and typical cutaneous lesions—the latter found in dermatomyositis. The underlying pathogenesis is characterized by a high level of uncertainty, and recent studies suggest diseases may have different immunopathological mechanisms. In polymyositis, components of the cellular immune system are involved, whereas in dermatomyositis, the pathogenesis is mainly mediated by the humoral immune response. The interstitial lung disease occurs in one-third of polymyositis and dermatomyositis patients associated with worse outcomes, showing an estimated excess mortality rate of around 40%. Lung involvement may also appear, such as a complication of muscle weakness, mainly represented by aspiration pneumonia or respiratory insufficiency. The clinical picture is characterized, in most cases, by progressive dyspnea and non-productive cough. In some cases, hemoptysis and chest pain are found. Onset can be acute, sub-acute, or chronic. Pulmonary involvement could be assessed by High Resolution Computed Tomography (HRCT), which may identify early manifestations of diseases. Moreover, Computed Tomography (CT) appearances can be highly variable depending on the positivity of myositis-specific autoantibodies. The most common pathological patterns include fibrotic and cellular nonspecific interstitial pneumonia or organizing pneumonia; major findings observed on HRCT images are represented by consolidations, ground-glass opacities, and reticulations. Other findings include honeycombing, subpleural bands, and traction bronchiectasis. In patients having Anti-ARS Abs, HRCT features may develop with consolidations, ground glass opacities (GGOs), and reticular opacities in the peripheral portions; nonspecific interstitial pneumonia or nonspecific interstitial pneumonia mixed with organizing pneumonia have been reported as the most frequently encountered patterns. In patients with anti-MDA5 Abs, mixed or unclassifiable patterns are frequently observed at imaging. HRCT is a sensitive method that allows one not only to identify disease, but also to monitor the effectiveness of treatment and detect disease progression and/or complications; however, radiological findings are not specific. Therefore, aim of this pictorial essay is to describe clinical and radiological features of interstitial lung diseases associated with polymyositis and dermatomyositis, emphasizing the concept that gold standard for diagnosis and classification–should be based on a multidisciplinary approach.

To investigate the role of diffuse pulmonary ossification (DPO) in disease severity in a population of Idiopathic Pulmonary Fibrosis (IPF) patients. This retrospective study was carried out on 95 IPF patients—44 with DPO on high resolution computed tomography (HRCT) and 51 with no calcifications detected on HRCT. Pulmonary Function Tests (PFTs) acquired nearest to the HRCT were collected. Images were analyzed by two radiologists using a qualitative method, based on HRCT fibrosis visual score, and using a quantitative method, based on histogram-based analysis. The Spearman’s rank correlation coefficient was used to measure the strength and direction of the linear relationship between HRCT fibrosis score and PFTs; in addition, Spearman’s rank correlation coefficient was used to explore the relationships between HRCT fibrosis score and quantitative index and between quantitative indexes and PFTs. A weak correlation between HRCT fibrosis score and PFTs was proven (r =–0.014 and p = 0.9347 for FVC (Forced Vital Capacity), r = −0.379 and p = 0.0174 for DLCO (Carbon monoxide diffusing capacity)). We found a moderate negative correlation between HRCT fibrosis score and kurtosis (r = −0.448, p = 0.004272) and skewness (r = −0.463, p = 0.003019) and a weak positive correlation with High Attenuation Area (HAA)% (r = 0.362, p = 0.0235). Moreover, a moderate linear correlation between Quantitative Indexes and FVC (r = 0.577, p = 0.000051 for kurtosis and FVC, r = 0.598, p = 0.000023 for skewness and FVC, r = −0.519, p = 0.0000364 for HAA% and FVC) and between quantitative indexes and DLCO (r = 0.469, p = 0.001508 for kurtosis, and DLCO, r = 0.474, p = 0.001309 for skewness and DLCO, r = −0.412, p = 0.005996 for HAA% and DLCO) was revealed. To better investigate the influence of DPO in disease progression, a longitudinal evaluation should be performed.

Introduction: Interstitial Lung Disease (ILD) patients (pts) with insufficient characteristics to reach criteria for Specific Autoimmune Disease (SAD) are classified as Interstitial Pneumonia with Autoimmune Features (IPAF). These criteria do not include Usual Interstitial Pneumonia (UIP) pattern in the morphological domain. We recently demonstrated a similar rate of progression to SAD between IPAF and a cohort of UIP-ILD in which only one of the other two domains (clinical/serological) was satisfied. We named this group “UIPAF” (Sambataro G. et al, Chest 2020). Aim: to analyze the clinical presentation and evolution of a cohort of UIPAF compared to Idiopathic Pulmonary Fibrosis (IPF). Methods: our ILD database was retrospectively reviewed for UIPAF and IPF pts. All pts between Jan-2017 and Jan-2019 were evaluated by rheumatologists and pulmonologists. A follow-up time of 1-year was required. Pts with SAD or IPAF were excluded. Results: 22 UIPAF and 78 IPF pts were studied. No differences were found in lung function, progression and mortality (table). Five UIPAF pts developed SAD within 1-year:2 Rheumatoid Arthritis, 1 Granulomatosis with Polyangiitis, 1 Polymyositis and 1 Systemic Sclerosis; no one within IPF pts (p=0.0001). Conclusions: UIPAF and IPF pts look indistinguishable for clinical presentation and outcome even if UIPAF have a higher probability to become a SAD. Progression of UIPAF is similar to “classic” IPAF, therefore the presence of a “morphological domain” in IPAF criteria need to be discussed.

Nailfold videocapillaroscopy (NVC) is an easy tool used for the assessment of patients with Raynaud's phenomenon (RP) as possibly associated with systemic sclerosis (SSc). Recent insights have also highlighted its role in the diagnostic assessment of idiopathic inflammatory myopathies (IIMs). The aim of this study is to describe the diagnostic role of NVC in a series of 361 consecutive patients with interstitial lung disease (ILD). All the patients were assessed by clinical pulmonary and rheumatic examinations, blood exams, high-resolution computed tomography and NVC. NVC was considered positive only in the presence of avascular areas or giant capillaries, but also, the presence of bushy capillaries (BCs) was recorded. NVC was positive in 17.7% of ILD patients and in 78.1% of ILD patients associated with a diagnosis of connective tissue disease (CTD). In 25% of SSc-ILD patients, NVC proved necessary for a correct diagnosis. The presence of BCs and/or NVC positivity in ILD patients with normal levels of creatine phosphokinase is associated with amyopathic IIM, regardless the presence of RP. In conclusion, NVC is useful for the diagnostic assessment of incomplete forms of CTD and in amyopathic IIMs. NVC should be considered in the diagnostic assessment of ILD patients regardless of the presence of RP.

A cyst is a round circumscribed area of low attenuation, surrounded by epithelial or fibrous wall. Cysts can frequently occur on chest computed tomography (CT) and high-resolution computed tomography (HRCT); multiple parenchymal cysts of the lungs are the most typical feature of cystic lung interstitial diseases, characterizing a wide spectrum of diseases-ranging from isolated lung disorders up to diffuse pulmonary diseases. The aim of this review is to analyze scientific literature about cystic lung interstitial diseases and to provide a practical guide for radiologists, focusing on the main morphological features of pulmonary cysts: size, shape, borders, wall, location, and distribution. These features are shown on free-hand drawings and related to HRCT images, in order to help radiologists pursue the correct differential diagnosis between similar conditions.