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Mymensingh Medical Journal : MMJ Jan 2024Pernicious anemia is an autoimmune disease leading to impaired absorption of dietary cobalamin. Patients with pernicious anemia can present with multiple hematological,...
Pernicious anemia is an autoimmune disease leading to impaired absorption of dietary cobalamin. Patients with pernicious anemia can present with multiple hematological, neurological and gastrointestinal complaints. Herein, we have a case of pernicious anemia presenting with alternating bowel habit. This was challenging and unique as the patient didn't have any usual condition responsible for alternating bowel habit and it is not reported in cases of pernicious anemia either. The case is a 46-year-old male who was admitted with alternating bowel habit, paresthesia and fever for the last 6 months. Patient was found to be severely anemic. After full workup, he was diagnosed with pernicious anemia. The patient was treated with IM Injections of Vitamin B12. After 3 months of discharge, the patient was free of all the symptoms. This case emphasizes the importance of investigating anemic patients with alternating bowel habit for pernicious anemia and also the need to exclude other causes of this symptom before labeling it as pernicious anemia only.
Topics: Male; Humans; Middle Aged; Anemia, Pernicious; Vitamin B 12; Autoimmune Diseases; Paresthesia
PubMed: 38163808
DOI: No ID Found -
Cureus Nov 2023We present a 29-year-old man admitted to our hospital with fatigue for two months of duration and recent palpitations, lightheadedness, blurred vision and nausea. Workup...
We present a 29-year-old man admitted to our hospital with fatigue for two months of duration and recent palpitations, lightheadedness, blurred vision and nausea. Workup showed pancytopenia with severe macrocytic anemia, laboratory and blood smear features of hemolysis, low reticulocyte percentage and a negative direct Coombs test. B12 and folate levels were normal. As bone marrow aspirate was suggestive of megaloblastic anemia and upper endoscopy showed atrophic gastritis, we ordered homocysteine (elevated) and intrinsic factor (IF) antibodies (positive). The workup led to the diagnosis of pernicious anemia with spuriously normal B12 levels. Replacement therapy allowed a rapid recovery. We highlight that the presence of IF antibodies can interfere with the competitive binding assays commonly used to measure B12 levels.
PubMed: 38106734
DOI: 10.7759/cureus.48937 -
World Journal of Gastroenterology Nov 2023As an emerging potential risk factor for gastric cancer, autoimmune gastritis (AIG) has garnered increasing attention from researchers.
BACKGROUND
As an emerging potential risk factor for gastric cancer, autoimmune gastritis (AIG) has garnered increasing attention from researchers.
AIM
To analyze the research overview and popular topics in the field of AIG using bibliometrics.
METHODS
Relevant publications on AIG in the Web of Science Core Collection were collated, and data visualization and analysis of the number of publications, countries, institutions, journals, authors, keywords, and citations were performed using software such as VOSviewer, CiteSpace, and Scimago Graphic.
RESULTS
In total, 316 relevant articles were included in the analysis. From 2015 to 2022, the number of publications increased annually. The countries, institutions, authors, and journals with the highest number of publications in this field were Italy, Monash University, Toh BH, and Internal Medicine. The main keywords used in this field of research were pathogenesis, , autoantibody, parietal cell antibody, atrophic gastritis, classification, diagnosis, autoimmune disease, risk, cancer, gastric cancer, vitamin B12 deficiency, and pernicious anemia. The following directions may be popular for future research: (1) The role of in the pathogenesis of AIG; (2) diagnostic criteria for AIG and reference values for serum antibodies; (3) comorbidity mechanisms between AIG and other autoimmune diseases; (4) specific risks of AIG complicating gastric and other cancers; and (5) the role of vitamin B12 supplementation in patients with early-stage AIG.
CONCLUSION
This bibliometric analysis reported on popular topics and emerging trends in AIG, with diagnosis and prognosis being research hotspots in this field.
Topics: Humans; Autoantibodies; Autoimmune Diseases; Bibliometrics; Gastritis; Gastritis, Atrophic; Stomach Neoplasms
PubMed: 38075850
DOI: 10.3748/wjg.v29.i42.5781 -
Frontiers in Neurology 2023Stiff Person Syndrome Spectrum Disorders (SPSD) are a group of rare neurological disorders that can present alongside other autoimmune conditions. However, not much is...
BACKGROUND
Stiff Person Syndrome Spectrum Disorders (SPSD) are a group of rare neurological disorders that can present alongside other autoimmune conditions. However, not much is known about the breadth of non-neurological autoantibodies seen in SPSD nor the observed prevalence of co-existing autoimmune comorbidities and their impact on SPSD.
OBJECTIVE
This study aimed to investigate the prevalence of non-neurological autoantibodies and associated conditions in a large cohort of people with SPSD.
METHODS
A retrospective review of 205 patients with suspected/definitive SPSD seen at Johns Hopkins Hospital from 1997 to 2023 was performed as part of an ongoing, observational study. Relevant demographics, clinical data (e.g., SPSD phenotypes, comorbid conditions, and dates of diagnoses), and laboratory values were collected from electronic medical records. Lab values were excluded if completed within 6 months of receiving intravenous immunoglobin treatment. Summary statistics were performed and assessment for any associations between autoimmune comorbidities and disease burden (modified Rankin score [mRS] and ambulation status) was performed.
RESULTS
The majority of participants had classic SPS (66%), followed by SPS-plus (18%) and PERM (6%) with less than 5% each of the remaining phenotypes and suspected SPS. The average age at symptom onset in this cohort was 44.1 ± 14.5 years (mean ± standard deviation). The majority of the cohort was white (66%) and female patients (75%). The mean mRS was 2.5, and over 70% required assistive devices for ambulation. The most commonly identified non-neurological autoantibodies were anti-nuclear (ANA) (31%), thyroperoxidase (30%), thyroglobulin (20%), and anti-parietal cell (18%) autoantibodies. The most common comorbid autoimmune conditions were autoimmune thyroiditis (38%), insulin-dependent diabetes mellitus (26%), and pernicious anemia (10%). Having more autoimmune comorbidities was weakly associated with higher mRS and a greater need for ambulatory assistance.
CONCLUSION
The results of this study will hopefully help promote awareness of which autoantibody and medical comorbidity clinicians should be aware of and monitor people with SPSD. Further research is needed to identify if poorly controlled non-neurological autoimmune disorders contribute to disease burden in SPSD and/or if the timing of being diagnosed with one of these conditions plays a role in future disability.
PubMed: 38073642
DOI: 10.3389/fneur.2023.1289460 -
Clinical Toxicology (Philadelphia, Pa.) Nov 2023Chronic nitrous oxide use can lead to neurological findings that are clinically and radiographically identical to those found in patients with pernicious anemia,...
INTRODUCTION
Chronic nitrous oxide use can lead to neurological findings that are clinically and radiographically identical to those found in patients with pernicious anemia, specifically subacute combined degeneration of the spinal cord and peripheral neuropathy.
CASE SUMMARY
A 22-year-old man presented with lower extremity weakness and ataxia in the setting of inhaling 250 nitrous oxide cartridges two to three times weekly for two years.
IMAGES
Magnetic resonance imaging showed T2 hyperenhancement of the dorsal columns of the cervical spine from the first to the sixth vertebrae, which helped to establish a diagnosis of nitrous oxide-induced subacute combined degeneration of the spinal cord.
CONCLUSIONS
Chronic nitrous oxide use should be included in the differential diagnosis of any patient with otherwise unexplained neurological complaints that localize to the dorsal columns and has the changes on magnetic resonance imaging described here.
Topics: Male; Humans; Young Adult; Adult; Subacute Combined Degeneration; Nitrous Oxide; Vitamin B 12; Spinal Cord; Magnetic Resonance Imaging
PubMed: 38060330
DOI: 10.1080/15563650.2023.2286205 -
Annales de Biologie Clinique Nov 2023We present a case of a 48-year-old woman with a fortuitous discovery of macrocytic anemia and thrombocytopenia. Serum folate and vitamin B12 levels were normal. However,...
We present a case of a 48-year-old woman with a fortuitous discovery of macrocytic anemia and thrombocytopenia. Serum folate and vitamin B12 levels were normal. However, due to the presence of indirect signs of cobalamin deficiency, such as elevated homocysteine and methylmalonic acid, and signs of dyserythropoiesis on the bone marrow aspirate, pernicious anemia was suspected. Vitamin B12 dosage was repeated finding fluctuating but always normal results. Anti-intrinsic factor antibodies were present at a very high level, explaining the fluctuations and the interference found on the assay using competitive binding chemiluminescence (CBLA). Serum vitamin B12 dosage by electrochemiluminescence, a method described as not interfering with intrinsic factor antibodies, showed a collapsed vitamin B12 level. Measurement of vitamin B12 with CBLA after adsorption of immunoglobulins in the sample using protein G SepharoseTM, confirmed the interference of the cobalamin assay with autoantibodies. This case illustrates the difficulties regarding the analysis and standardization of the vitamin B12 assay for the diagnosis of pernicious anemia.
PubMed: 37987415
DOI: 10.1684/abc.2023.1834 -
Clinical Immunology (Orlando, Fla.) Mar 2024Systemic lupus erythematosus (SLE) and myasthenia gravis (MG) are autoimmune diseases. Previous case reports and case series suggest an association may exist between...
BACKGROUND
Systemic lupus erythematosus (SLE) and myasthenia gravis (MG) are autoimmune diseases. Previous case reports and case series suggest an association may exist between these diseases, as well as an increased risk of SLE after thymectomy for MG. We undertook this study to determine whether SLE and MG were associated in large cohorts.
METHODS
We searched the IBM Watson Health Explorys platform and the Department of Veterans Affairs Million Veteran Program (MVP) database for diagnoses of SLE and MG. In addition, we examined subjects enrolled in the Lupus Family Registry and Repository (LFRR) as well as controls for a diagnosis of MG.
RESULTS
Among 59,780,210 individuals captured in Explorys, there were 25,750 with MG and 65,370 with SLE. 370 subjects had both. Those with MG were >10 times more likely to have SLE than those without MG. Those with both diseases were more likely to be women, African American, and at a younger age than MG subjects without SLE. In addition, the MG patients who underwent thymectomy had an increased risk of SLE compared to MG patients who had not undergone thymectomy (OR 3.11, 95% CI: 2.12 to 4.55). Autoimmune diseases such as pernicious anemia and miscellaneous comorbidities such as chronic kidney disease were significantly more common in MG patients who developed SLE. In the MVP, SLE and MG were also significantly associated. Association of SLE and MG in a large SLE cohort with rigorous SLE classification confirmed the association of SLE with MG at a similar level.
CONCLUSION
While the number of patients with both MG and SLE is small, SLE and MG are strongly associated together in very large databases and a large SLE cohort.
Topics: Female; Humans; Male; Lupus Erythematosus, Systemic; Myasthenia Gravis; Thymectomy
PubMed: 37949200
DOI: 10.1016/j.clim.2023.109810 -
A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.The Journal of Clinical Investigation Nov 2023Autoimmune polyendocrine syndrome type 1 (APS-1) is caused by mutations in the autoimmune regulator (AIRE) gene. Most patients present with severe chronic mucocutaneous...
Autoimmune polyendocrine syndrome type 1 (APS-1) is caused by mutations in the autoimmune regulator (AIRE) gene. Most patients present with severe chronic mucocutaneous candidiasis and organ-specific autoimmunity from early childhood, but the clinical picture is highly variable. AIRE is crucial for negative selection of T cells, and scrutiny of different patient mutations has previously highlighted many of its molecular mechanisms. In patients with a milder adult-onset phenotype sharing a mutation in the canonical donor splice site of intron 7 (c.879+1G>A), both the predicted altered splicing pattern with loss of exon 7 (AireEx7-/-) and normal full-length AIRE mRNA were found, indicating leaky rather than abolished mRNA splicing. Analysis of a corresponding mouse model demonstrated that the AireEx7-/- mutant had dramatically impaired transcriptional capacity of tissue-specific antigens in medullary thymic epithelial cells but still retained some ability to induce gene expression compared with the complete loss-of-function AireC313X-/- mutant. Our data illustrate an association between AIRE activity and the severity of autoimmune disease, with implications for more common autoimmune diseases associated with AIRE variants, such as primary adrenal insufficiency, pernicious anemia, type 1 diabetes, and rheumatoid arthritis.
Topics: Adult; Animals; Child, Preschool; Humans; Mice; Autoimmune Diseases; Mutation; Polyendocrinopathies, Autoimmune; RNA, Messenger; T-Lymphocytes; AIRE Protein
PubMed: 37909333
DOI: 10.1172/JCI169704 -
Cureus Sep 2023Pernicious anemia, historically tied to vitamin B12 malabsorption due to intrinsic factor secretion impairment, has evolved in understanding, especially concerning its... (Review)
Review
Pernicious anemia, historically tied to vitamin B12 malabsorption due to intrinsic factor secretion impairment, has evolved in understanding, especially concerning its association with autoimmune gastritis. This systematic review dives deep into the multifaceted relationship between infection, autoimmune gastritis, and the presence of anti-intrinsic factors and anti-parietal cell antibodies. Comprehensive database searches revealed a higher prevalence of infection in pernicious anemia patients, with some studies suggesting a consequential increase in the aforementioned antibodies. Interestingly, eradication of displayed potential therapeutic effects; patients showcased reductions in antibody titers, improved histopathological findings, and reversion of atrophic changes in gastric corpus. Such outcomes highlight the conceivable benefits of considering infection during the evaluation and management of pernicious anemia and autoimmune gastritis. However, disparities across studies make direct comparisons challenging. It's essential to approach the potential role of in these conditions with caution. Further research is warranted to cement conclusions and refine clinical management strategies. This review seeks to prompt new investigative avenues into the intricate link between autoimmune gastritis, and pernicious anemia, ultimately enhancing patient care.
PubMed: 37885562
DOI: 10.7759/cureus.45887 -
The Nurse Practitioner Nov 2023The symptoms of pernicious anemia might resemble those of other common disorders and can be nonspecific, requiring extensive diagnostic workup. The provider must be...
The symptoms of pernicious anemia might resemble those of other common disorders and can be nonspecific, requiring extensive diagnostic workup. The provider must be aware of the harm pernicious anemia can do if undiagnosed and untreated and must understand that diligence and persistence are crucial for an accurate diagnosis.
Topics: Humans; Anemia, Pernicious
PubMed: 37884022
DOI: 10.1097/01.NPR.0000000000000113