Internal medicine
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Review
Clinical Challenges of Emerging Acquired Autoinflammatory Diseases, Including VEXAS Syndrome.
Vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, caused by an acquired mutation in the ubiquitin-activating enzyme ubiquitin-like modifier activating enzyme 1 (UBA1), was discovered in 2020. Since then, many cases have been reported worldwide. Recently, we performed UBA1 genetic testing in suspected cases of VEXAS throughout Japan and investigated the clinical features of these cases. ⋯ As the concept of "acquired autoinflammatory diseases," including VEXAS syndrome, has gained popularity, the number of suspected cases is expected to increase. Currently, there are no established diagnostic or treatment guidelines for these conditions, and they need to be urgently developed. This review summarizes the clinical problems faced by patients with acquired autoinflammatory diseases, including VEXAS.
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Case Reports
Composite Lymphoma after Treatment with Infliximab for Sarcoidosis and Ankylosing Spondylitis.
Lymphoid proliferations and lymphomas associated with immune deficiency and dysregulation (LP/L-IDD) are rare entities associated with the use of immunosuppressive drugs (ISD) for autoimmune conditions. Composite lymphomas, featuring both B-cell and T-cell lymphomas, are infrequent, and their occurrence as LP/L-IDD is rare. ⋯ CHOP chemotherapy led to significant remission. This case report emphasizes the need to consider lymphoma in patients with autoimmune diseases such as sarcoidosis and ankylosing spondylitis, especially those treated with ISDs.
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Case Reports
A Case of Multiple Cerebral Infarcts Due to Severe Anemia Preceded by Migraine-like Headache with Aura.
We herein report a 47-year-old woman who developed migraine-like headache with aura and subsequent multiple cerebral infarcts, likely due to severe iron deficiency anemia (IDA) from menorrhagia. The progression from IDA to ischemic stroke involves several pathophysiological mechanisms, including reduction of erythrocyte deformability, reactive thrombocytosis, and anemic hypoxia. ⋯ This case highlights the transition from migraine-like headache to ischemic stroke. New-onset migraine-like headache is a warning of impending ischemic stroke, and IDA may be a potential underlying cause.
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Objective To assess the association between concomitant use of central nervous system drugs and femoral fracture risk in individuals ≥80 years old in Japan. Methods A case-crossover design was used, defining the case period as 3 days before the fracture diagnosis and the control period as 31-33, 34-36, and 37-39 days prior. ⋯ Results In 255,875 patients, the concomitant use of central nervous system drugs increased the odds ratios of femoral fracture [3.41 (95% confidence interval: 3.27-3.55), 3.69 (3.46-3.91), 3.76 (3.42-4.13), and 4.34 (3.86-4.86) for an intake of >0-1, >1-2, >2-3, and >3 central nervous system drugs, respectively]. Conclusion The concomitant use of central nervous system drugs is associated with an increased risk of femoral fractures in individuals ≥80 years old in Japan.
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We herein report a patient with systemic lupus erythematosus (SLE) and neuropsychiatric SLE (NPSLE), who had been misdiagnosed with schizophrenia for a long time and presented with pancytopenia. Brain magnetic resonance imaging revealed sporadic punctate hyperintense areas in the cerebral white matter. ⋯ NPSLE is a serious organ complication that significantly worsens the SLE prognosis. NPSLE symptoms are diverse and difficult to diagnose and differentiate from those of other neuropsychiatric disorders, especially in an early onset.