Interstitial lung diseases (ILDs) in patients with shortened telomeres have not been well characterized. We describe demographic, radiologic, histopathologic, and molecular features, and p16 expression in patients with telomeres ≤10th percentile (shortened telomeres) and compare them to patients with telomere length >10th percentile. Lung explants, wedge biopsies, and autopsy specimens of patients with telomere testing were reviewed independently by 3 pathologists using defined parameters. High-resolution computed tomography scans were reviewed by 3 radiologists. p16-positive fibroblast foci were quantified. A multidisciplinary diagnosis was recorded. Patients with shortened telomeres (N=26) were morphologically diagnosed as usual interstitial pneumonia (UIP) (N=11, 42.3%), chronic hypersensitivity pneumonitis (N=6, 23.1%), pleuroparenchymal fibroelastosis, fibrotic nonspecific interstitial pneumonia, desquamative interstitial pneumonia (N=1, 3.8%, each), and fibrotic interstitial lung disease (fILD), not otherwise specified (N=6, 23.1%). Patients with telomeres >10th percentile (N=18) showed morphologic features of UIP (N=9, 50%), chronic hypersensitivity pneumonitis (N=3, 16.7%), fibrotic nonspecific interstitial pneumonia (N=2, 11.1%), or fILD, not otherwise specified (N=4, 22.2%). Patients with shortened telomeres had more p16-positive foci (P=0.04). The number of p16-positive foci correlated with outcome (P=0.0067). Thirty-nine percent of patients with shortened telomeres harbored telomere-related gene variants. Among 17 patients with shortened telomeres and high-resolution computed tomography features consistent with or probable UIP, 8 (47.1%) patients showed morphologic features compatible with UIP; multidisciplinary diagnosis most commonly was idiopathic pulmonary fibrosis (N=7, 41.2%) and familial pulmonary fibrosis (N=5, 29%) in these patients. In conclusion, patients with shortened telomeres have a spectrum of fILDs. They often demonstrate atypical and discordant features on pathology and radiology leading to diagnostic challenges.
Coronavirus disease 2019 (COVID-19) was initially recognized in late December 2019 and has quickly spread globally with over 114 million reported cases worldwide at the time of this publication. For the majority of patients infected with COVID-19, the clinical manifestations are absent or mild. In more advanced cases, severe respiratory dysfunction is the leading cause of morbidity and mortality. However, increasingly, there have been reports of increased thrombotic complications including pulmonary embolism and deep vein thrombosis seen in these patients. We present herein a series of cases of concomitant COVID-19 pneumonia and venous thromboembolism. These cases highlight the importance of clinical and radiologic vigilance to ensure this often clinically silent complication is not missed.
Abstract:This case highlights an atypical presentation of primary hyperparathyroidism with significant life-threatening hypercalcemia in an 83 year old lady admitted with non-specific symptoms of malaise, dyspnoea and epigastric discomfort. On imaging she was subsequently discovered to have two distinct unexpected findings, a parathyroid mass and a cystic pancreatic mass. Initially an underlying genetic syndrome linking the two structural lesions was considered, possibly a pancreatic neuroendocrine tumor in the presence of a parathyroid mass. However further investigation with a CT pancreatic protocol, revealed her pancreas to show evidence of previous pancreatitis with resultant pseudocyst formation, likely all induced by hypercalcemia of unknown duration. She denied any prior acute episodes of epigastric pain. Whilst previous case reports describe the diagnosis of a parathyroid lesion presenting with acute pancreatitis, our case is rare in that the pancreatitis was an incidental discovery. Although relatively asymptomatic, the pancreatic inflammation induced by hypercalcaemia was significant resulting in development of a large pseudocyst in the pancreatic tail and radiological evidence consistent with previous episodes of pancreatitis. The patient's hypercalcemia had also resulted in nephrocalcinosis and tooth resorption. This case acts a reminder that although primary hyperparathyroidism is often considered a relatively benign entity, life-threatening hypercalcemia can develop and requires urgent management. It highlights the multi-systemic sequelae that can occur with chronic hypercalcemia and reminds us that parathyroid carcinoma although rare, must always be considered when markedly elevated levels of parathyroid hormone and hypercalcemia are encountered.
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