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Comprehensive causal analysis between autoimmune diseases and glioma: A Mendelian randomization study.

Medicine (Baltimore)

March 2025

Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

The causal association between the autoimmune disease and the development of glioma and its subtypes remains unclear. We performed a comprehensive Mendelian randomization (MR) to clarify their causal association from genetic perspective. We obtained the summary-level datasets for autoimmune diseases from recently published genome-wide association studies in the UK Biobank (UKB) and the FinnGen consortium.

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An 88-year-old woman with pernicious anemia and atrial fibrillation on apixaban was admitted for evaluation of refractory anemia. Characteristic findings on computed tomography and upper gastrointestinal endoscopy confirmed the diagnosis of gastric antral vascular ectasia. This case highlights the importance of endoscopic surveillance in refractory anemia, even when other causes of anemia are present, and emphasizes the need for clinicians to remain vigilant for easily overlooked signs on computed tomography.

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An 80 year old female with a past medical history of hypertension, hyperlipidemia, hypothyroidism, and chronic back pain presented to the hospital with fatigue and was found to have a severe macrocytic anemia. Blood work showed pancytopenia and positive markers of hemolysis. Additional work up was consistent with severe vitamin B12 deficiency and pernicious anemia.

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Epstein-Barr virus (EBV) affects over 90% of the global population and has been linked to several autoimmune disorders. This report describes a patient with EBV-associated hepatitis who subsequently developed aplastic anaemia, pernicious anaemia and autoimmune thyroiditis. The patient was treated with an immunosuppressive regimen with gradual improvement in his pancytopenia and autoimmune thyroiditis.

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The 2024 NICE guidelines on vitamin B deficiency have significant implications for the diagnosis and management of pernicious anaemia (PA), the commonest non-dietary cause of such deficiency. This perspective discusses the guidelines in relation to PA itself, suggests that clearer diagnostic protocols are required, and calls for clinician education to improve the patient journey for those with PA.

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