Unexplained Anemia Research Articles

Endoscopic Tunnel Dissection of an Oesophageal Bronchogenic Cyst: A Case Report

Introduction: A bronchogenic cyst is a very rare congenital malformation typically found in the middle and superior mediastinum. Infrequently, it can be located in the pericar-dium, diaphragm, oesophagus, and stomach. Intramural oesophageal bronchogenic cysts are highly uncommon, and because of this, they have not been extensively studied. They are gen-erally asymptomatic; however, due to their potential to cause complications, such as evolution into malignancy, the removal of these cysts is recommended. Routinely, techniques, including thoracotomy and thoracoscopy, have been adopted for excision. This case report details our success in performing a complete resection of an intramural oesophageal bronchogenic cyst via a novel approach of Submucosal Tunneling Endoscopic Resection (STER). Case Presentation: A 62-year-old woman was referred for an outpatient gastroscopy and co-lonoscopy for further investigation of her unexplained iron deficiency anaemia, abdominal pain, diarrhoea, and weight loss. A single oesophageal nodule was found on gastroscopy, which was further characterized and deemed to be benign on upper endoscopic ultrasound. The lesion was removed via the STER technique. During the procedure, submucosal fibres were dissected and a full-thickness myotomy was performed to completely remove the lesion. Histologically, the lesion showed a cyst lining comprising ciliated columnar epithelium, a finding consistent with a bronchogenic cyst. The patient maintained a normal diet and re-mained asymptomatic throughout the follow-up period. Conclusion: This report documents the successful resection of an oesophageal bronchogenic cyst via the STER technique. This novel approach appears to be a valuable tool with negligible invasiveness. It provides a feasible option for patients.

Anaemia of Inflammation Preceding Dyspnoea, Dry Cough and Weight Loss in Primary Pulmonary Lymphoma.

There is little information in the literature on the early, sub-clinical stage and laboratory test results in patients with primary mucosa-associated lymphoid tissue (MALT) lymphoma of the lung, a rare disease. In a 75-year-old man, an open lung biopsy-confirmed diagnosis of primary pulmonary lymphoma was preceded by almost six months of anaemia of inflammatory disease and monocytosis without any pulmonary symptoms. When he developed a dry cough, increasing dyspnoea and marked weight loss, these changes deepened and became associated with reactive thrombocytosis; markedly increased ferritin and C-reactive protein (positive acute-phase reactants), as well as reduced albumin and transferrin (negative acute-phase reactants). Globulins increased, due to an increase in the alpha1, alpha2 and gamma fractions, and mild hyponatraemia developed due to the syndrome of inappropriate antidiuretic hormone secretion (SIADH) secondary to the intrathoracic disease. All these changes were completely reversible following successful treatment and complete remission. The previously unreported detailed laboratory features of early, sub-clinical and advanced primary pulmonary lymphoma are presented. When a potentially susceptible patient develops an unexplained anaemia of inflammatory disease, primary pulmonary lymphoma should be added to the differential diagnosis. B-cell pulmonary lymphoma without extra-pulmonary disease (primary pulmonary lymphoma) remains a rare entity, often arising from mucosa-associated lymphoid tissue, presenting with non-specific symptoms (cough, dyspnoea) and imaging (nodules <5 cm or areas of consolidation on CT), and diagnosed by an adequate biopsy.Our patient's course demonstrates early, pre-clinical changes: anaemia of inflammation and monocytosis, which became more severe as symptoms developed and imaging abnormalities progressed, and was associated with marked acute-phase response (for example, substantially increased ferritin levels), increased globulins and hyponatraemia due to the syndrome of inappropriate antidiuretic hormone secretion.In patients with unexplained anaemia of inflammatory disease, occult pulmonary lymphoma should be considered in the differential diagnosis.

Biliverdinuria Caused by Exonic BLVRA Deletions in Two Dogs with Green Urine.

Background/Objectives: In heme degradation, biliverdin reductase catalyzes the conversion of biliverdin to bilirubin. Defects in the biliverdin reductase A gene (BLVRA) causing biliverdinuria are extraordinarily rare in humans, and this inborn error of metabolism has not been reported in other mammals. The objective of this study was to diagnose biliverdinuria and identify the causal BLVRA variants in two adult mixed-breed dogs with life-long green urine. One of the dogs also had an unexplained regenerative anemia and mild hepatopathy. Methods: Clinicopathological evaluations, urinary mass spectroscopy, and molecular genetic studies were performed. Urine metabolic screening identified increased biliverdin concentrations in both cases relative to control dogs. Results: Whole genome and Sanger sequencing revealed that each case was homozygous for large deletions in BLVRA: UU_Cfam_GSD_1.0/canFam4 chr18:6,532,022-6,551,313 (19,292 bp) in Case 1 and chr18:6,543,863-6,545,908 (2046 bp) in Case 2. These variants were predicted to result in major BLVRA truncations (ENSCAFT00805017018.1 p.[Lys117-Lys296del] and p.[Ala154fs], respectively) and loss of enzyme function. In a genomic variant database, 671 dogs from 63 breeds had coverage over these regions, ruling out homozygosity for the BLVRA deletions. A gene defect for the regenerative anemia in Case 1 was not discovered. Conclusions: While expected to be rare, genotyping for the BLVRA deletions can be used to identify other affected and carrier dogs. This study illustrates the use of targeted metabolic and genomic screening as key diagnostic tools to diagnose a rare metabolic disorder. These are the first confirmed cases of biliverdinuria caused by BLVRA defects in non-human mammals.

Incidental identification of neonatal babesiosis: a case report

BackgroundEvaluation of suspected neonatal sepsis rarely considers diagnostic workup for vector-borne illnesses, as these are generally infrequent etiologies in the febrile neonate. Babesiosis -- a zoonosis caused by apicomplexan parasites of the genus Babesia and spread to humans by the Ixodes scapularis tick -- can either be clinically silent, or symptomatic with fever, constitutional symptoms, as well as anemia and thrombocytopenia. We report here a rare case of neonatal babesiosis that was incidentally identified during routine workup for neonatal sepsis.Case presentationA full-term male neonate with fever was admitted to the hospital for sepsis evaluation. On routine complete blood count with manual differential blood smear, parasites were incidentally detected, later identified as Babesia microti. On review of maternal history, there was antenatal history of unexplained thrombocytopenia and anemia, and post-hoc review of peripartum maternal blood smear showed rare intra-erythrocytic parasites, which were confirmed as B. microti by PCR testing of maternal blood. Ultimately, the infant was successfully treated with azithromycin and atovaquone, received a red blood cell transfusion for symptomatic anemia, and remained well at his outpatient follow-up visit.ConclusionThis unusual case highlights the importance of including neonatal babesiosis in the differential diagnosis for neonatal sepsis in endemic regions, including careful review of maternal antenatal exposure history and labs, and consideration of peripheral blood smear in suggestive cases.

Severe Anemia and Neutropenia in a Patient with Gollop Wolfgang Syndrome: Implications of Malabsorption-Induced Micronutrient Deficiency. a Case Report

Severe Anemia and Neutropenia in a Patient with Gollop Wolfgang Syndrome: Implications of Malabsorption-Induced Micronutrient Deficiency. a Case Report

Under Documentation of Anemia in Older Adults in Primary Care Practices

Under Documentation of Anemia in Older Adults in Primary Care Practices

Evaluation of Erythroid Maturation Patterns in Unexplained anemia in the Elderly

Evaluation of Erythroid Maturation Patterns in Unexplained anemia in the Elderly

Co-existence of Myelodysplastic Disorders and Plasma Cell Neoplasms: Case Series

Abstract Introduction/Objective The development of myelodysplastic syndrome (MDS) in patients with plasma cell neoplasm (PCN) receiving treatment is well reported. However, co-occurrence of both, without any chemotherapy history, is sparsely documented in the literature. We aim to highlight the possible association between both. Methods/Case Report Database search was done using Epic Slicer-Dicer for cases with biopsy proven co-existing MDS and PCN (from 2010-2022). The patients’ charts were reviewed to collect and analyze the clinical features. Results (if a Case Study enter NA) We identified 3 patients, all in their seventies on presentation: First patient: man, presented with unexplained chronic anemia. Serum protein electrophoresis (SPEP) showed elevated levels of monoclonal IgG kappa (4.2 g/dl). Evaluation of the BM biopsy revealed MDS with low blasts (WHO-5) with IgG plasma cell myeloma (56% Kappa-restricted plasma cells). Chromosome analysis revealed normal karyotype. Molecular studies were not done. Second patient: man, with Rheumatoid Arthritis and anemia. SPEP revealed biclonal IgG lambda (2.0 g/dl). BM biopsy indicated 5-8% lambda-restricted plasma cell proliferation. Anemia was managed with darbopoetin, but without improvement. The patient did not get chemotherapy. Follow-up BM biopsy was done, showing MDS with low blasts and ringed sideroblasts (WHO-5) alongside the PCN. FISH showed two abnormal IGH rearrangement populations. Chromosome analysis revealed normal karyotype. Molecular studies were not done. Third patient: woman, with pancytopenia. SPEP indicated monoclonal protein IgG lambda (1.8 g/dl). BM biopsy revealed 10% lambda-restricted plasma cell proliferation, coexisting with MDS with increased blasts grade 2 (WHO-5). Molecular studies showed: 2-FLT3 L601_K602insNFREYEYDL and ASXL1 E635fs*15. Chromosome analysis revealed normal karyotype. No in common clinical findings found during chart reviewing the cases. Conclusion Further investigating the underlying pathology, bone marrow microenvironment, and molecular and cytogenetics abnormalities in a larger number of patients with co-existing MDS and PCN is important. Also, if there was an association, it is important to study the sequence of occurrence between them.

Waldenstrom's Macroglobulinemia: A Case Report

Waldenström's macroglobulinemia (WM) is a rare, slow-growing hematologic malignancy marked by elevated levels of monoclonal immunoglobulin M (IgM) and bone marrow infiltration by lymphoplasmacytic cells. This case details a 72-year-old man who, during a pre-anesthetic consultation for lumbar spinal stenosis surgery, presented with neurological symptoms, fatigue, and headaches. Examination revealed pallor, and laboratory tests indicated anemia and an elevated erythrocyte sedimentation rate. Serum protein electrophoresis identified a monoclonal IgM spike, and bone marrow aspiration showed significant infiltration by small lymphoid cells, lymphoplasmacytoid cells, and plasma cells. WM was confirmed, and the patient was treated with dexamethasone, rituximab, and cyclophosphamide, with positive follow-up progress. This case underscores the importance of considering WM in the differential diagnosis for patients with unexplained anemia and elevated IgM levels, highlighting the need for timely diagnosis and treatment to manage potential complications.

Survey of Emergency Department Clinicians on the Utility of the Guaiac Fecal Occult Blood Test.

Emergency department (ED) clinicians utilize the guaiac fecal occult blood test (gFOBT) in their assessment of suspected gastrointestinal bleeding or unexplained anemia despite supporting evidence. ED clinicians' ability to predict the gFOBT results and how the gFOBT results could affect ED patient disposition has not been previously studied. Methods: From October 16, 2019, through September 15, 2020, we conducted a single-site survey of ED clinicians before and after performing gFOBTs during routine clinical care. Survey data were collected and retrospectively evaluated with unadjusted and multivariable regression analyses. We examined a total of 133 combined pre-gFOBT and post-gFOBT surveys. ED clinicians accurately predicted gFOBT results with an area under the receiver operating characteristic curve of 0.75 (95%CI, 0.66-0.85). Of clinician-predicted certain or very probable positive gFOBT results, only 79% were actually positive. In multivariable analyses, decreased hematocrit level (odds ratio (OR), 0.31/10% increase; 95%CI, 0.14-0.61), decreased red blood cell count (OR, 0.41/1x1012/L increase; 95%CI, 0.21-0.75), and absence of firm stool consistency (OR, 0.09; 95%CI, 0.01-0.42) were associated with positive gFOBT results (allP<.006). The most common reason for performing gFOBTs was black stool or suspected melena, followed by decreased hemoglobin level, red blood in stool, and suspected upper gastrointestinal tract bleeding. Before performing gFOBT, 50.8% of clinicians responded that the test results would change patient disposition, which decreased to 30.5% after the gFOBT result. We found that ED clinicians cannot predict the gFOBT results with high accuracy. A suspected GI bleed is the main reason for performing the test in the ED.

Erythropoietin levels in geriatric anemia.

Defects in the production or action of erythropoietin (EPO) are important contributing factors in anemia. However, the exact impact of aging on levels of EPO and its role in the development of geriatric anemia is still underexplored. Moreover, the specific pattern of EPO in etiological subcategories such as nutritional anemia (NA), anemia of chronic disease (ACD), and unexplained anemia (UA) is not entirely known. The aim of the study was to determine the serum EPO levels in geriatric anemia and compare them across NA, ACD, UA, and NA with ACD. Ninety anemic geriatric patients (cases) along with 30 non-anemic geriatric controls were evaluated for serum EPO levels. A correlation between S.EPO and inflammatory markers was also done. Serum EPO levels were higher in cases as compared to controls (P < 0.00). After adjusting for outliers, the reference range of EPO in controls was the same as in normal young adults (2.21-20.95 mU/mL). The majority (37/58, 63.7%) of NA patients had increased S.EPO levels (highest among all four subcategories and controls). S.EPO also correlated inversely with high-sensitivity CRP (hsCRP) and serum ferritin (SF), reinforcing that the inflammatory state suppresses S.EPO levels. Geriatric anemic patients have elevated S.EPO as compared to non-anemic controls (observed reference range similar to young adults). Raised EPO levels were detected more frequently in NA, while they were the lowest in UA.

Inactive Parp2 causes Tp53-dependent lethal anemia by blocking replication-associated nick ligation in erythroblasts

Inactive Parp2 causes Tp53-dependent lethal anemia by blocking replication-associated nick ligation in erythroblasts

S3893 Using a Smartwatch as a Diagnostic Tool in a Patient with Ulcerative Colitis who Developed Unexplained Anemia and Hypoxia

S3893 Using a Smartwatch as a Diagnostic Tool in a Patient with Ulcerative Colitis who Developed Unexplained Anemia and Hypoxia

S4862 Multifaceted Diagnostic Approach for Unexplained Anemia in a Post Liver Transplant Patient With Metastatic Adenocarcinoma and Roux-en-Y Gastric Bypass

S4862 Multifaceted Diagnostic Approach for Unexplained Anemia in a Post Liver Transplant Patient With Metastatic Adenocarcinoma and Roux-en-Y Gastric Bypass

Atypical presentation of falciparum malaria in a returning traveler: a diagnostic dilemma

Falciparum malaria, caused by Plasmodium falciparum, is a significant global health concern, especially in tropical regions. This case report details an atypical presentation of falciparum malaria in a 32-year-old male who returned to India after traveling to South Africa. The patient presented with a two-month history of high-grade fever, severe anemia, jaundice, easy fatigability, and significant weight loss. Initial laboratory investigations revealed severe anemia, thrombocytopenia, elevated inflammatory markers, and splenomegaly, but peripheral blood smears were negative for malaria parasites. Despite initial challenges in diagnosis, bone marrow aspiration confirmed the presence of P. falciparum. The patient was treated with artemether/lumefantrine, resulting in clinical and hematological improvement. This case highlights the importance of considering malaria in patients with unexplained anemia and splenomegaly, especially those with recent travel to endemic areas, even when initial diagnostic tests are negative. It underscores the value of comprehensive diagnostic approaches, including bone marrow examination, in atypical cases. This report contributes to the understanding of malaria's varied clinical presentations and reinforces the need for awareness and timely intervention to prevent complications.

Peaks and Distortions: Evaluation of Irregularities in Capillary Serum Protein Electrophoresis-An Institutional Experience of 980 Cases From Bihar.

Capillary zone electrophoresis (CZE) is an easy to perform technique encompassing a wide range of clinical applications ranging from inflammatory, renal, hepatic, neurological disorders as well as hematological malignancies like Plasma cell neoplasms. The objectives of the study are to explore various patterns of serum protein abnormalities in different medical diseases ranging from systemic disorders to hematological malignancies coming to our institute and to correlate these electrophoretic abnormalities with clinic-hematological and biochemical parameters. The present study was conducted in the Department of Hematology of a tertiary care institute over a period of 20months. Altogether 980 samples were received for serum protein electrophoresis (SPE) in clinically indicated cases. Detailed clinical history, hematological and biochemical reports were compiled and analyzed with SPE reports. SPE was performed by Minicap Flex piercing fully automated capillary electrophoresis system from Sebia France and results were interpreted. In the present study, out of 980 cases 630 (64.3%) were males and 350 (35.7%) were females with a M: F ratio of 1.9:1. Most of the cases were in the age group of 51-60years (n-285, 47.4%) followed by 41-50years (n = 188, 27%). The most common indication for SPE was Chronic kidney disease (CKD) that accounted for 50% of all cases, followed by Plasma cell neoplasms (40%). Acute kidney injury (AKI), nephrotic syndrome (NS), peripheral neuropathy, and unexplained anemia were the other indications. Most common SPE pattern obtained on CZE was that of polyclonal hypergammaglobulinemia accounting to 316 of all cases (32.2%), closely followed by 292 cases of chronic inflammatory pattern (29.7%). Distortion in gamma region was seen in 14.7% cases (145/980). A distinct M spike was seen in 57 cases (5.8%) suggesting a diagnosis of monoclonal gammopathy. A comprehensive look at all the protein fractions, their distortions and peaks along with clinico-biochemical and hematological correlation can help in reaching out to a correct diagnosis.

Metastatic Adenocarcinoma to Bone Marrow Presenting as Microangiopathic Hemolytic Anemia - Diagnostic Issues in a Series of Seven Young Adults.

Cancer related microangiopathic hemolytic anemia is a rare entity and shares clinical and hematological features with other causes of thrombotic microangiopathy and leads to diagnostic dilemma and treatment delays. This record-based descriptive study, spanning five years, details the clinicopathological features with special emphasis on the peripheral blood findings in unsuspected cases of bone marrow metastasis of unknown primary in young adults. Seven relatively young patients, with an average age of 27 years, presented with unexplained anemia with peripheral blood showing features of microangiopathic hemolytic anemia, thrombocytopenia, and leukoerythroblastic picture. Subsequent bone marrow examination revealed presence of metastatic adenocarcinoma with the primary site being detected in five of the seven patients. This case series highlights these uncommon, but significant, hematological manifestations of metastatic adenocarcinoma in bone marrow in young adults, and the importance of astute observations of peripheral blood smear in detection of an underlying malignancy.

The nexus between Helicobacter pylori infection and anemia—a systematic review

This systematic review delves into the intricate relationship between Helicobacter pylori (H. pylori) infection and anemia, shedding light on its significance for public health. Helicobacter pylori, a prevalent bacterium associated with gastritis, peptic ulcers, and stomach cancer, is examined alongside anemia, characterized by a deficiency in red blood cells or hemoglobin. Through an exploration of epidemiology, pathophysiological mechanisms, and healthcare implications, this review emphasizes the global distribution and incidence rates of H. pylori infections and anemia. Socioeconomic and environmental factors influencing prevalence are underscored. Diagnostic methodologies and treatment options for both conditions are discussed in detail. Analysis of studies investigating the causal relationship between H. pylori infection and anemia reveals potential mechanisms such as inflammation-induced alterations in iron and vitamin B12 absorption. While evidence suggests a connection between H. pylori infection and anemia, methodological limitations are acknowledged, necessitating further research to establish causality conclusively. The review highlights the importance of healthcare practitioners considering H. pylori screening for patients with unexplained or persistent anemia symptoms, as effective treatment of H. pylori infection may lead to improved anemia outcomes. Challenges such as antibiotic resistance and patient adherence to treatment regimens are identified. In conclusion, ongoing research into the link between H. pylori infection and anemia offers promising insights, albeit with persisting gaps in understanding. Collaborative efforts are required to address methodological challenges and develop tailored prevention and treatment strategies, accounting for variations in prevalence across populations and regions.

Angiodysplasias of the Small Intestine: What is the Contribution of Video-Capsule Endoscopy?

Introduction: Most angiodysplasias are found in the small bowel and are responsible for 50-60% of gastrointestinal bleeding and iron-deficiency anemia, particularly in patients aged over 60 years. The aim of this study is to evaluate the contribution of VCE in the diagnosis of angiodysplasia in patients with unexplained iron-deficiency anemia. Materials and Methods: This is a descriptive monocentric study from June 2018 to June 2024, including patients referred for unexplained iron deficiency anemia without gastrointestinal bleeding and explored by VCE type PillCam® SB3 and Capsocam. All our patients underwent a clinico-biological examination, upper and lower endoscopy with biopsies, for which the results were negative. Results: From a total of 161 patients who underwent VCE; 50 (31,05 %) were referred forf evaluation of unexplained iron deficiency anemia. the average age was 56.21 years, with a female predominance (sex ratio: 1.4). 42% of patients were hypertensive, 32 % were diabetic, 24 % were taking non-steroidal anti-inflammatory drugs (NSAIDs), 4% had Crohn's disease, 2 % had celiac disease and 2% had portal hypertension. 18 % of patients had capsule retention factors, dominated by abdominopelvic surgery in 14,57 % of cases. the mean hemoglobin level was 6.9 g/dl (range 3 – 10 g/dL). The mean ferritin level was 5,1 ng/dL (range 1.5 – 16 ng/dL). VCE found vascular lesions in 70 % of cases, dominated by angiodysplasias in 58 % of cases, red spots were noted in 4 cases (8.3%), phlebectasias in 3 cases (6.25%). We also reported 1 case of vascular ectasia, small intestine varices and portal hypertension enteropathy. It's important to note that a patient may present with several types of lesions. The distribution of lesions according to location was duodenal in 19% of cases, jejunal in 51% of cases, ileal in 30% of cases. Conclusion: according to our study, female gender, elderly age and low hemoglobin levels probably increase the risk of angiodysplasia diagnosis.

Clinical and demographic features of patients undergoing video-capsule endoscopy management: A descriptive study.

Video-capsule endoscopy (VCE) is an efficient tool that has proven to be highly useful in approaching several gastrointestinal diseases. VCE was implemented in Colombia in 2003, however current characterization of patients undergoing VCE in Colombia is limited, and mainly comes from two investigations conducted before the SARS-CoV-2 pandemic period. To describe the characteristics of patients undergoing VCEs and establish the main indications, findings, technical limitations, and other outstanding features. A descriptive study was carried out using data from reports of VCE (PillCam SB3 system) use in a Gastroenterology Unit in Bogotá, Colombia between September 2019 and January 2023. Demographic and clinical variables such as indication for the VCE, gastric and small bowel transit times (GTT, SBTT), endoscopic preparation quality, and limitations were described [n (%), median (IQR)]. A total of 133 VCE reports were analyzed. Most were in men with a median age of 70 years. The majority had good preparation (96.2%), and there were technical limitations in 15.8% of cases. The main indications were unexplained anemia (91%) or occult bleeding (23.3%). The median GTT and SBTT were 14 and 30 minutes, respectively. The frequencies of bleeding stigma (3.79%) and active bleeding (9.09%) were low, and the most frequent abnormal findings were red spots (28.3%), erosions (17.6%), and vascular ectasias (12.5%). VCE showed high-level safety. The main indication was unexplained anemia. Active bleeding was the most frequent finding. Combined with artificial intelligence, VCE can improve diagnostic precision and targeted therapeutic interventions.