Internal medicine
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Acquired von Willebrand syndrome (aVWS) develops with various underlying diseases. We herein report an individual with aVWS associated with mucosa-associated lymphoid tissue lymphoma in the lungs complicated by hyperviscosity syndrome, Sjögren's syndrome, and hypothyroidism. ⋯ Thus, lymphoma and hyperviscosity might result in aVWS. Invasive procedures with a risk of bleeding should be avoided in individuals with aVWS.
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Angioimmunoblastic T-cell lymphoma (AITL) is an intractable type of T-cell lymphoma. We and others have identified that the p. Gly17Val RHOA mutation is specifically identified in AITL. ⋯ Gly17Val RHOA mutation as well as T-lineage cells with an aberrant immune-phenotype in the pericardial effusion. This case suggests that a precision medicine approach by detecting the presence of a p. Gly17Val RHOA mutation is useful for the management of AITL.
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Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder of the vasculature, characterized by epistaxis, telangiectasia and arteriovenous malformations in multiple organs. We herein report a 49-year-old woman with a history of early-onset myocardial infarction and intracranial aneurysms, in whom we incidentally detected multiple hepatic vascular abnormalities. ⋯ Whole-exome sequencing revealed a novel pathogenic variant in SMAD4, a relatively rare causative gene for HHT. This case highlights the fact that HHT patients may present with asymptomatic liver lesions.
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A 79-year-old man was admitted with worsening cough, dyspnea, and increased ground-glass opacity on chest computed tomography (CT). He had been diagnosed with idiopathic pulmonary fibrosis given the absence of an identifiable cause of interstitial pneumonia, chest CT findings, and absence of lymphocytosis in bronchoalveolar lavage (BAL) fluid. ⋯ A re-evaluation with BAL showed lymphocytosis, and clinical improvement with antigen avoidance confirmed the diagnosis of fibrotic hypersensitivity pneumonitis (fHP). A re-evaluation with BAL at disease deterioration after possible exposure to inciting antigen can facilitate a correct fHP diagnosis.
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A 70-year-old man was diagnosed with hepatocellular carcinoma (HCC) with portal vein invasion and lung metastases, for which atezolizumab plus bevacizumab (ATZ/BEV) was initiated. After two months, computed tomography revealed tumor growth accompanied by ascites, right ventricular invasion, exacerbation of the lung metastases, and main portal vein invasion. ⋯ The tumor growth was considered to reflect pseudoprogression, which is difficult to distinguish from hyperprogression. We herein report a remarkable HCC case of pseudoprogression on ATZ/BEV.