Citations

Background/Objectives: Interstitial lung disease (ILD) occurs commonly in systemic sclerosis (SSc) and is the leading cause of mortality. There are limited data on the accuracy of lung auscultation in identifying the presence of ILD in patients with SSc. Methods: We retrospectively identified patients with newly diagnosed SSc who had documented lung auscultation findings and chest high-resolution computed tomography (HRCT) available for review. Diagnoses were made by rheumatologists at Mayo Clinic, Rochester, Minnesota, USA over a 4-year period. Pulmonary function measurements included lung volumes, spirometry, and single-breath diffusing capacity. Results: Among 151 patients with SSc (median age, 62 years), 72.2% were female and 55.0% were never smokers. Limited cutaneous SSc was the most common phenotype (67.3%). Seventy (46.4%) patients were evaluated by pulmonologists. There was evidence of ILD by HRCT in 69 patients (45.7%); the most common pattern of ILD was fibrotic nonspecific interstitial pneumonia (59.2%). Respiratory symptoms were present in 46.4% of those with ILD compared to 15.9% among those without. The sensitivity and specificity for crackles heard by rheumatologists in detecting ILD were 50.7% and 97.6%, respectively; for pulmonologists, 71.4% and 85.7%, respectively. Presence of crackles was associated with high positive predictive values (94.6% for rheumatologists vs. 92.1% for pulmonologists, respectively); negative predictive values were moderate (70.2% vs. 56.3%, respectively). Crackles correlated with lower pulmonary function measures but did not differ across ILD patterns. Conclusions: Detection of crackles on lung auscultation appears to be a specific and moderately sensitive indicator of ILD (often asymptomatic) in patients with newly diagnosed SSc. The presence of crackles correlates with worse pulmonary function but may be absent in early ILD.

Spontaneous pneumothorax (SP) is defined by the presence of air in the pleural space arising from neither trauma nor iatrogenic causes. It can develop secondary to various etiologies. The familial clustering observed in some patients with SP supports the view that genetic factors play a role in the pathogenesis of SP. Several recognizable pneumothorax-associated genetic syndromes exist, including Birt-Hogg-Dubé syndrome (BHD), tuberous sclerosis complex-associated lymphangioleiomyomatosis (TSC-LAM), Marfan syndrome (MFS), cystic fibrosis (CF), alpha-1 antitrypsin deficiency (AATD), vascular Ehlers-Danlos syndrome (vEDS), Loeys-Dietz syndrome (LDS), and a few others. Recognition of these syndromes underlying SP facilitates optimal management and counseling regarding prognosis and potential comorbidities. In this review, we systematically summarize several genetic syndromes associated with pneumothorax, in which SP may manifest either as an initial presenting symptom or as a potential complication that adversely affects the prognosis.

Interstitial lung abnormalities (ILAs) are incidental nondependent radiologic findings that may portend early or future interstitial lung disease (ILD), but do not meet specific criteria at the time of presentation. They are subclinical by definition and found more commonly in older ever-smokers undergoing computed tomography (CT) imaging for other indications, including cardiac or lung cancer screening programs. As ILA prevalence increases, driven by an aging population and heightened awareness in younger patients, understanding risk factors for their development and progression has gained recent interest, particularly for optimizing subsequent ILD outcomes. This narrative review summarizes current ILA definitions, epidemiology, risk stratification, and management, while highlighting current challenges and knowledge gaps.

Background: Pneumocystis jirovecii pneumonia (PJP) is life-threatening for immunocompromised patients. No consensus exists on PJP prophylaxis for immunosuppressed patients without HIV, transplant, or cancer. Methods: We retrospectively reviewed the electronic health records of adult immunosuppressed patients with PJP diagnosed between 1990 and 2020 at Mayo Clinic. Patients with HIV, solid organ transplants, or cancer were excluded. Demographic data, treatments, and outcomes were manually abstracted. Results: The most common indications for immunosuppression were rheumatoid arthritis (19.7%), vasculitis (18.1%), and interstitial lung disease (ILD) not related to connective tissue disease (17.6%). Despite having high risk of PJP, 86.0% of patients did not receive PJP prophylaxis. Corticosteroids were the most common immunosuppressive agent used (84.5%), with 64.4% of patients receiving high-dose treatment. Nonbiologic disease-modifying antirheumatic drugs were used for 49.7%, including methotrexate (51.0%), azathioprine (22.9%), and hydroxychloroquine (11.5%). Biologics were prescribed for 25.4%, primarily rituximab (59.2%) and infliximab (22.4%). Hospitalization occurred for 76.7% of patients; 70.3% required intensive care unit (ICU) admission, and 46.6% received mechanical ventilation. The in-hospital mortality rate was 30.4% overall and 53.6% for patients on ventilation. Predictors of death included ILD [odds ratio (OR), 4.61; 95% CI, 1.75-13.00], ICU admission (OR, 3.60; 95% CI, 1.19-11.08), and ventilator use (OR, 3.46; 95% CI, 1.30-9.79). Biologic use was associated with lower odds of death (OR, 0.34; 95% CI, 0.11-0.89). Conclusions: Most patients in our cohort did not receive PJP prophylaxis, and outcomes were poor with high mortality rates. Standardized risk stratification and prophylaxis protocols are needed to improve outcomes.

Abstract Erdheim-Chester disease (ECD) is a rare systemic histiocytic neoplasm, with cardiac morbidities, including cardiovascular (CV) risk factors and cardiac conditions, playing a significant yet poorly understood role in the disease burden. This study evaluated the prevalence, characteristics, and prognosis of ECD in patients with (ECD-C) and without cardiac involvement (ECD-noC) and compared the burden of cardiac morbidities with matched controls. Patients diagnosed with ECD between 1990 and 2021 at a tertiary center were included, with cardiac involvement centrally assessed using radiographic studies. Cardiac morbidities were compared with a control group without ECD, matched for age, sex, body mass index, and smoking history. Among 104 patients with ECD, 39 (37%) had cardiac involvement. Patients with ECD-C had higher rates of hypertension (67% vs 46%), hyperlipidemia (67% vs 40%), heart failure (36% vs 8%), and pericardial effusion (28% vs 2%) than those with ECD-noC. Compared with the matched non-ECD cohort, patients with ECD had higher prevalence of coronary artery disease (20% vs 7%), heart failure (18% vs 4%), and antihypertensive drug use (55% vs 40%). Notably, patients with ECD-C had inferior progression-free survival (PFS) from frontline therapy compared with patients with ECD-noC (5-year PFS, 28.3% vs 70.5%). These findings highlight the burden of CV risk factors and cardiac conditions in ECD, even without a clinical diagnosis of ECD-C. Importantly, this cardiac morbidity burden is substantial for patients with ECD-C compared with ECD-noC. Our findings highlight the need for comprehensive cardiac risk assessment and management strategies to improve patient outcomes.

Background Birt–Hogg–Dubé syndrome (BHD) is a rare autosomal dominant disease characterised by the development of lung cysts, skin fibrofolliculomas and an increased risk for renal cancer. The progression of cystic lung disease with ageing in BHD has not been well characterised. Objectives To assess the severity of lung involvement in patients with BHD aged 50 years or older. Methods A retrospective computer-assisted search was performed to identify patients with BHD seen at Mayo Clinic in Rochester, Minnesota and the First Affiliated Hospital of University of Science and Technology of China from January 2000 to May 2023. Demographic, clinical, pulmonary function and radiological parameters were extracted and analysed. Results Among 82 patients with BHD aged 50 years or older, 49 (59%) were female and the median age was 57 years (range, 50–79) at baseline. Pneumothorax occurred in 46 patients (56%). Lung cysts were observed on CT in 77 patients (94%) and were bilateral in nearly all cases. The number of cysts was≥10 for most patients (84%) and the median size of the largest cyst was 31 mm (range, 4–160 mm). Median (range) % predicted values of forced vital capacity, forced expiratory volume in 1 s and diffusion capacity of the lung for carbon monoxide were 98 (62–147), 92 (56–145) and 85 (61–133), respectively, for those with data available. During follow-up (median, 41 months; range, 3–259), 35% of patients manifested worsening in pulmonary function or cystic lung disease. Conclusion Lung involvement in older patients with BHD manifests varying severity of cystic lung disease with relatively mild functional impairment, if any, and indolent progression.