Diagnostic uncertainties in congenital syphilis: A case report.

Congenital syphilis is a forgotten disease, and often misdiagnosed. It can present with a myriad of clinical features, mimicking various other conditions therefore posing difficulty in diagnosis. Patient may be born preterm with low birth weight, failure to thrive with hemolytic anemia, thrombocytopenia, and leukocytosis. It is a treatable condition, commonly treated with penicillin or ceftriaxone.

Clinical and Hematological Correlates of Hemolytic Anemia in Diabetic Foot Ulcer Patients: A Prospective Observational Study.

Background Diabetic foot ulcers (DFUs) are a significant complication of diabetes mellitus and are often accompanied by various complications including hemolytic anemia. However, the clinical and hematological correlates of hemolytic anemia in patients with DFU remain poorly understood. This prospective observational study aimed to investigate the clinical and hematological correlates of hemolytic anemia in patients with DFU and to elucidate the potential mechanisms underlying this complication and its impact on wound healing. Methodology A total of 148 adult patients diagnosed with DFUs were enrolled in this study. Clinical and demographic data were collected, including age, sex, duration of diabetes, glycemic control status, presence of comorbidities, and foot ulcer characteristics. Hematological parameters, including complete blood counts, reticulocyte counts, and hemolysis markers, were measured at baseline and during the follow-up visits. Statistical analyses were conducted to assess the prevalence of hemolytic anemia, identify the demographic and clinical factors associated with its presence, and explore its relationship with wound healing outcomes. Results The prevalence of hemolytic anemia among patients with DFU was 41.9%. Patients with hemolytic anemia had a longer duration of diabetes (mean duration: 8.3 ± 2.1 years), higher glycated hemoglobin (HbA1c) levels (mean: 9.2% ± 1.5%), and a greater burden of comorbidities than those without hemolytic anemia. Hematological analysis revealed significant differences in hemoglobin levels, red blood cell indices (mean corpuscular volume: 89.6 ± 5.2 fL), and markers of hemolysis (mean lactate dehydrogenase level: 325 ± 45 U/L) between DFU patients with and without hemolytic anemia. Furthermore, correlations were observed between hematological parameters and wound healing outcomes, suggesting potential implications for clinical management. Conclusions This study provides valuable insights into the clinical and hematological correlates of hemolytic anemia in patients with DFU. These findings highlight the importance of recognizing and addressing hematological abnormalities in the management of DFU, with potential implications for optimizing wound healing and improving clinical outcomes.

A Rare Case of Severe Folate Deficiency-Induced Pancytopenia.

Chronic alcoholism is a well-documented cause of folate deficiency, with past studies revealing high prevalence rates among alcoholics. Despite mandatory folate fortification in the UK from 2021, individuals with chronic alcohol consumption remain susceptible to severe folate deficiencies. This case study explores the hematological impact of severe folate deficiency in a 38-year-old female chronic alcoholic who presented with pancytopenia. The patient's symptoms included cough, shortness of breath, lethargy, reduced appetite, constipation, and rectal bleeding. Her medical history included polycystic ovarian syndrome and fatty liver disease. Blood tests revealed macrocytosis, pancytopenia, elevated bilirubin, and low serum folate levels. Management involved transfusions with packed red blood cells and oral folate supplementation, resulting in rapid hematological improvement. This case underscores the importance of early diagnosis and intervention for folate deficiency, particularly among chronic alcoholics. Folate, or vitamin B9, is essential for DNA synthesis and red blood cell production. Chronic alcohol consumption disrupts folate metabolism and absorption, leading to deficiencies. The patient's improvement with folate supplementation highlights the efficacy of this treatment. This case emphasizes the need for ongoing monitoring and support for chronic alcoholics to prevent recurrent folate deficiency. Further studies are necessary to assess the long-term efficacy of folate-fortification programs and ensure they meet the needs of vulnerable groups, including those with chronic alcohol dependence.

Red Cell Pyruvate Kinase Deficiency With Hypertriglyceridemia: A Case Report.

Red cell pyruvate kinase (PK) deficiency is a genetic disorder affecting the enzyme PK in red blood cells. A deficiency in PK leads to hemolytic anemia. Hypertriglyceridemia means elevated levels of triglycerides in the blood. The hypertriglyceridemia disorder can be primary or secondary to an underlying disease. Hypertriglyceridemia with ß-thalassemia major is a known association and is called hypertriglyceridemia-thalassemia syndrome. A four-month-old male child was found to have milky serum. On investigation, there was severe anemia, with triglycerides at 1197 mg/dL and high lactate dehydrogenase (LDH). The child had severe pallor, mild icterus, a dysmorphic face, and splenohepatomegaly. Ophthalmic examination showed lipemia retinitis. The child was treated with medium-chain fatty acid formula feed. Regular blood transfusions, folic acid supplements, and avoidance of salicylate group drugs were advised. The child improved and is doing well. Thus, early diagnosis and treatment can change the prognosis and help maintain a near-normal life for affected infants.

[One case of methemoglobinemia and hemolytic anemia caused by acute nitrogen trifluoride poisoning].

This paper analyzes the pathogenesis, clinical characteristics, treatment measures and prognosis of a case of methemoglobin and hemolytic anemia caused by acute nitrogen trifluoride poisoning. The patient with occupational exposure to nitrogen trifluoride was treated immediately after the onset of illness, methemoglobin was monitored and a comprehensive examination was conducted. After comprehensive analysis, it was considered that acute nitrogen trifluoride poisoning could cause methemoglobinemia, hemolytic anemia and liver injury. The patient was disengaged and given symptomatic treatment such as oxygen therapy, methylene blue, low-dose methylpredrone, vitamin C and reduced glutathione. The prognosis of the patient is good, which provides a reference for the clinical treatment and occupational health examination of nitrogen trifluoride poisoning.

Oxidative hemolytic crises in a dog due to fragrance products: clinical insights and treatment approaches.

IMPORTANCE: This is the first reported case of fragrance products-induced recurrent oxidative hemolytic anemia in a dog, detailing the successful therapeutic approach employed. CASE PRESENTATION: A 4-year-old intact female Pomeranian dog presented with brown tongue, pigmenturia, peripheral edema, and vomiting. Blood smears revealed a high count of eccentrocytes and Heinz bodies, along with a precipitous decline in packed cell volume and an increase in blood methemoglobin levels, suggesting an oxidative hemolytic crisis. This clinicopathological pattern recurred several times after the patient returned home. Antioxidants, methylene blue, hyperbaric oxygen (HBO) therapy, and blood transfusion were successfully employed to address recurrent hemolytic anemia; however, oxidative hemolytic crises recurred. After the owner removed exposure to various home remedies and fragrances, the clinical signs and hemolytic crises did not recur. CONCLUSION AND RELEVANCE: Recurring oxidative hemolytic crises should raise suspicions of environmental toxicity, which, although harmless in small quantities to humans, can be devastating to small-breed dogs. In addition to removing the causative agents, methylene blue and other antioxidants, along with HBO, may be beneficial in the acute management of oxidative hemolytic anemia.

Identification of hemolytic anemia in Korean indigenous cattle with a criteria value of reticulocyte count, indirect bilirubin, and L-lactate concentration.

Bovine hemolytic anemia has a negative impact on animal welfare and productivity due to its associated clinical symptoms. Hemolysis is generally known to cause reticulocytosis, increased indirect bilirubin, decreased concentration of haptoglobin, and increased lactate dehydrogenase. Additionally, tissue hypoperfusion due to concomitant anemia increases blood lactate concentration. However, few studies have reported the correlation between these indicators and hemolytic anemia in cattle. We expected that alterations in hematological and biochemical parameters could identify cattle with hemolytic anemia. Therefore, in addition to reporting differences in indicators according to hemolytic anemia, this study aimed to derive indicators and set criteria for identification of bovine hemolytic anemia. In cattle with hemolytic anemia, reticulocytosis, increased indirect bilirubin, and increased L-lactate were observed, and the correlation of these indicators with hematocrit (HCT) was confirmed. And since HCT alone has limitations in identifying hemolytic anemia, we suggest additional criteria to identify hemolytic anemia in cattle.

Thrombotic Microangiopathy in Pregnancy: Current Understanding and Management Strategies.

Thrombotic microangiopathy (TMA) represents a heterogeneous group of disorders characterized by microvascular thrombosis and end-organ damage. Pregnancy-associated thrombotic microangiopathy (p-TMA) has emerged as a distinct clinical entity with unique diagnostic challenges. Identifying the specific form of p-TMA is critical for appropriate and timely management. This review offers a comprehensive overview of the various forms of thrombotic microangiopathies associated with pregnancy, highlighting our current understanding of their pathophysiology and the evolving landscape of diagnosis and treatment for each.

Diagnostic and Therapeutic Strategies in Evans Syndrome: A Case Report and Literature Review.

Evans syndrome (ES) is characterized by a combination of autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP). Immune dysregulation, which results in the development of antibodies against blood cells, is its defining feature. ES being a diagnosis of exclusion requires a thorough workup to rule out other probable illnesses like lymphoproliferative diseases and systemic lupus erythematosus (SLE). We present the case of a 38-year-old male who experienced shortness of breath, chest discomfort, and generalized weakness. His medical history included recurrent anemia, thrombocytopenia, and pulmonary tuberculosis in remission. Hemolysis, thrombocytopenia, and a large pericardial effusion were discovered during the physical examination and investigations. An initial treatment strategy that included pericardiocentesis was performed. In combination with AIHA and ITP, the clinical and laboratory findings strongly suggested ES, which improved with prednisolone therapy. First-line treatments consist of corticosteroids and intravenous immunoglobulin; refractory cases may also require rituximab, thrombopoietin receptor antagonists, and sirolimus. Achieving remission and lowering relapse rates need careful patient monitoring and customized treatment programs.

[Cold agglutinin syndrome associated with infectious mononucleosis: A case report]. / Síndrome por aglutininas frías secundario a mononucleosis infecciosa: reporte de un caso.

Background: Cold agglutinin syndrome (CAS) is a hemolytic anemia mediated by antibodies, mainly IgM, whose maximum activity occurs at 4 °C. It happens secondary to infectious, autoimmune or neoplastic diseases, due to the formation of antibodies that cross-react against erythrocyte antigens, particularly of the I system. Here, we describe a case of CAS associated to Epstein-Barr virus (EBV) reactivation in a patient with primary human immunodeficiency virus (HIV) infection. Clinical case: 22-year old man with no medical history, hospitalized due to mononucleosis and anemic syndrome. Hemoglobin of 3.7 g/dL and elevation of lactate dehydrogenase were documented. In the peripheral blood smear it was observed spherocytosis, polychromasia and nucleated erythrocytes. EBV infection was confirmed with serology and viral load, as well as seronegative HIV infection with positive viral load. The C3d monospecific direct antiglobulin test was positive and an irregular antibody screening revealed the presence of an anti-I antibody. The patient received transfusion support and conservative treatment, with remission of the symptoms 2 weeks after admission. Conclusions: Cold agglutinin syndrome is a rare, potentially fatal complication of infectious mononucleosis, which should be considered in the face of findings suggestive of hemolysis in order to initiate support measures in a timely manner.

Introducción: el síndrome por aglutininas frías (SAF) es una anemia hemolítica mediada por anticuerpos principalmente de tipo IgM, cuya máxima actividad se da a 4 °C. Se presenta en el contexto de enfermedades infecciosas, autoinmunes o neoplásicas por la formación de anticuerpos que tienen reacción cruzada contra antígenos eritrocitarios, particularmente del sistema I. En este trabajo presentamos un caso de SAF asociado a reactivación del virus de Epstein-Barr (VEB) en un paciente con primoinfección por el virus de la inmunodeficiencia humana (VIH). Caso clínico: hombre de 22 años, sin antecedentes patológicos, hospitalizado por síndrome mononucleósico y anémico. Presentó hemoglobina de 3.7 g/dL y elevación de lactato deshidrogenasa. En el frotis de sangre periférica se observó esferocitosis, policromasia y eritrocitos nucleados. Se confirmó infección por VEB con serología y carga viral, así como infección por VIH seronegativa, con carga viral positiva. La prueba de antiglobulina directa monoespecífica a C3d fue positiva y el rastreo de anticuerpos irregulares demostró un anticuerpo anti-I. El paciente recibió soporte transfusional y tratamiento conservador, con remisión del cuadro a las 2 semanas de su ingreso. Conclusiones: el SAF es una complicación poco frecuente de la mononucleosis infecciosa, potencialmente mortal, la cual debe ser considerada ante hallazgos sugestivos de hemólisis con la finalidad de iniciar medidas de soporte de forma oportuna.

A Rare Presentation of Glucose-6-Phosphate Dehydrogenase Deficiency.

Approximately 400 million individuals globally experience glucose-6-phosphate dehydrogenase (G6PD) insufficiency, an enzymatic condition that may be hazardous. Because of mutations in the G6PD gene, which result in functional variants alongside a variety of biochemical and clinical symptoms, this condition is an X-linked hereditary genetic disorder. Our case is that of a 12-year-old male child who presented with acute liver failure and later on, exhibited signs of hemolysis as well. We had to rule out the possibilities of acetaminophen toxicity and hepatitis A before reaching the conclusion that an underlying G6PD deficiency was being exacerbated by viral infection and simultaneous ingestion of non-steroidal anti-inflammatory drugs (NSAIDs).

A Case of Coombs-Negative Primary Warm Autoimmune Hemolytic Anemia Due to IgA Antibody That Responded Well to Rituximab and Steroids.

Warm autoimmune hemolytic anemia (WAIHA) occurs due to antibodies active at body temperature that react with antigens on the surface of red blood cells, leading to hemolysis. Antibodies are typically IgG. WAIHA, associated exclusively with IgA antibodies, remains rare. Direct antiglobulin (Coombs) test may result negative in IgA antibody associated WAIHA. IgA-mediated WAIHA can present with severe hemolytic anemia. Further testing using an expanded direct antiglobulin test (DAT) panel is necessary to detect IgA antibodies if there is a high suspicion of autoimmune hemolytic anemia in cases that initially test negative for DAT. Steroids with or without rituximab are the mainstay of treatment. Early detection using an extended DAT panel with monospecific antisera helps avoid further investigations, unnecessary transfusions, and complications.

Clinical and laboratory profile of patients with positive direct antiglobulin test attended at a university hospital in Goias, Brazil.

OBJECTIVE: To clinically and laboratory characterize patients with a positive direct antiglobulin test (DAT) treated at the Hospital das Clínicas of the Federal University of Goiás (HC-UFG). METHODS: A retrospective, descriptive, cross-sectional study was carried out collecting data from medical records of patients with a positive DAT who were treated at HC-UFG between August 2021 and August 2022. RESULTS: Eighty-four patients with positive polyspecific DAT results were screened in the clinical laboratory. Fifty-four patients had a laboratory profile compatible with autoimmune hemolytic anemia (AIHA), however, among these, 16 patients already had a diagnosis of AIHA in their medical records. The most common symptoms present among AIHA patients were pallor, asthenia, fatigue and dyspnea. For the remaining patients, the most common symptoms were severe thrombocytopenia, anemia, renal dysfunction, fever, myalgia, headache, thrombosis, asthenia, hematuria and joint pain. Only one patient had primary AIHA, that is, he had no evident underlying disease. The majority of AIHA patients (75 %) underwent corticosteroid therapy with 60 % having a positive response. For patients without AIHA, prednisone was the most frequently prescribed medication in 17 (25 %) patients, followed by hydroxychloroquine (14 patients - 20.1 %). CONCLUSION: It is essential to evaluate patients with positive DAT in detail in order to understand the real clinical case. The DAT serological result alone does not arrive at a conclusive diagnosis of AIHA, and so it must be evaluated in conjunction with both clinical data and other laboratory tests, such as hemoglobin concentration and hemolysis tests (reticulocytes, lactate dehydrogenase and/or haptoglobin).

Secondary Evans Syndrome Presenting With Lupus Anticoagulant.

Evans syndrome (ES), characterized by autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP), often poses diagnostic challenges due to its varied etiology and clinical presentation. We present a case of secondary ES in a 41-year-old male with a history of AIHA and ITP, who presented with lower extremity erythema, warmth, and sensation of chest pressure. Initial laboratory investigations revealed thrombocytopenia, mild anemia, and a prolonged activated partial thromboplastin time (aPTT), prompting further evaluation. Subsequent testing revealed positive lupus anticoagulant (LA), anti-cardiolipin antibodies, and anti-beta-2-glycoprotein 1 antibodies, along with lower extremity deep vein thrombosis (DVT) and bilateral pulmonary embolism (PE). Treatment with therapeutic anticoagulation led to clinical improvement, highlighting the importance of recognizing hypercoagulable states in ES patients. This case underscores the significance of comprehensive differential diagnosis and timely intervention in optimizing outcomes for patients with ES.

Autoimmune Hemolytic Anemia Associated With Myelodysplastic Syndrome: A Case Report.

Myelodysplastic syndrome (MDS) represents a spectrum of myeloid disorders occasionally linked to autoimmune diseases. Here, we present a case of a 60-year-old man demonstrating an unusual coexistence of MDS with warm-autoantibody autoimmune hemolytic anemia (wAIHA). Diagnostic evaluation, including positive direct antiglobulin testing, confirmed the autoimmune etiology of his anemia despite his low-risk MDS classification. Prompt initiation of prednisone therapy resulted in significant hematological and clinical improvement, allowing for a conservative management approach without transfusion requirements. This case underscores the importance of identifying the relationship between wAIHA and MDS, particularly in low-risk scenarios. Moreover, these findings suggest the efficacy of corticosteroids in managing autoimmune anemia in the context of concomitant wAIHA and MDS.

Microangiopathic Hemolytic Anemia as a Paraneoplastic Syndrome in a Patient with Metastatic Gastric Cancer.

Cancer-associated microangiopathic hemolytic anemia (CA-MAHA) is a rare paraneoplastic syndrome. The most effective approach to treating CA-MAHA is to address the underlying malignancy. Documented cases of CA-MAHA are limited to fewer than 50 patients in the literature. Herein, we present a 51-year-old female patient who developed CA-MAHA as a complication of gastric adenocarcinoma. Despite receiving neoadjuvant and adjuvant chemotherapy for gastric cancer, the patient experienced disease progression with metastatic lesions in the liver, pancreas, and other sites. This report highlights the challenges in diagnosing and distinguishing CA-MAHA from other similar conditions such as disseminated intravascular coagulation (DIC), hemolytic uremic syndrome (HUS), thrombotic thrombocytopenic purpura (TTP), and rheumatological paraneoplastic syndromes. Additionally, it concludes that CA-MAHA is associated with a poor prognosis and limited clinical benefit from treatment, emphasizing the need for early diagnosis and effective management strategies.

Autoimmune hepatitis presenting as severe anemia.

Autoimmune hepatitis (AIH) is relatively rare in children. Herein, our case demonstrates a unique presentation of AIH in a previously healthy 18-year-old female presenting with a mild cough, fatigue, and severe anemia (hemoglobin 2.9 g/dL). Initial evaluation revealed jaundice and scleral icterus, prompting transfer of care and further testing, which demonstrated severe microcytic anemia, pancytopenia, elevated liver enzymes, direct hyperbilirubinemia, and marked splenomegaly. Concern for autoimmune hemolytic anemia resulted in a delayed diagnosis. The combination of triple antibody positivity (anti-nuclear antibodies, anti-actin, and anti-liver-kidney microsomal-1) and liver histology findings confirmed the diagnosis of AIH. Intravenous methylprednisolone was initiated to induce remission. Due to pancytopenia and persistently elevated international normalized ratio, tacrolimus was chosen as the maintenance immunosuppression instead of azathioprine. This case highlights several significant considerations for clinicians, including the importance of a timely clinicopathologic diagnosis, the severe anemia presentation secondary to hypersplenism, and the rare finding of triple autoantibody-positive AIH.

Prolyl hydroxylase inhibitor desidustat attenuates autoimmune hemolytic anemia in mice.

Autoimmune hemolytic anemia (AIHA) is a heterogeneous group of diseases mediated by autoantibody directed against RBCs causing hemolysis and anemia. AIHA develops rapidly or over time, depending on the triggering factor. Desidustat is a prolyl hydroxylase inhibitor clinically used for the treatment of chronic kidney disease (CKD)-induced anemia. In this study, we investigated the effect of desidustat in preclinical model of AIHA. We used rat RBC for induction of AIHA in mice. These mice were then treated with desidustat (15 mg/kg, PO, once a day) for eight weeks. Desidustat treatment increased hemoglobin, RBC and hematocrit and decreased WBC and lymphocytes. This treatment suppressed serum LDH, oxidative stress in RBCs, antibody titer and antibody deposition on RBC surface, and increased RBC lifespan. Serum and spleen iron along with spleen mass and oxidative stress were decreased by desidustat. Bone marrow iron was increased and expression of CD71 (cell surface marker for early erythroid progenitor) and TER-119 (cell surface marker for late erythroid progenitor) in bone marrow were found to be elevated by desidustat by treatment. This treatment also suppressed deposition of membrane-bound antibody in late erythroid cells. The treatment showed reduction in total splenic cells, CD71 and TER-119 positive cells in the spleen. Thus, desidustat treatment increased erythropoiesis, early maturation of bone marrow erythroid cells having longer RBC life span due to decrease in the antibody-mediated lysis of RBCs and its progenitors leading to reduced oxidative stress. Thus, desidustat can be a good therapeutic option for treatment of AIHA.

The Phenomenon of Thrombotic Microangiopathy in Cancer Patients.

Thrombotic microangiopathy (TMA) encompasses a range of disorders characterized by blood clotting in small blood vessels, leading to organ damage. It can manifest as various syndromes, including thrombotic thrombocytopenic purpura (TTP), hemolytic-uremic syndrome (HUS), and others, each with distinct causes and pathophysiology. Thrombo-inflammation plays a significant role in TMA pathogenesis: inflammatory mediators induce endothelial injury and activation of platelet and coagulation cascade, contributing to microvascular thrombosis. Primary TMA, such as TTP, is primarily caused by deficient ADAMTS13 metalloproteinase activity, either due to antibody-mediated inhibition or intrinsic enzyme synthesis defects. In cancer patients, a significant reduction in ADAMTS13 levels and a corresponding increase in VWF levels is observed. Chemotherapy further decreased ADAMTS13 levels and increased VWF levels, leading to an elevated VWF/ADAMTS13 ratio and increased thrombotic risk. Drug-induced TMA (DITMA) can result from immune-mediated or non-immune-mediated mechanisms. Severe cases of COVID-19 may lead to a convergence of syndromes, including disseminated intravascular coagulation (DIC), systemic inflammatory response syndrome (SIRS), and TMA. Treatment of TMA involves identifying the underlying cause, implementing therapies to inhibit complement activation, and providing supportive care to manage complications. Plasmapheresis may be beneficial in conditions like TTP. Prompt diagnosis and treatment are crucial to prevent serious complications and improve outcomes.

Efficacy and challenges of anti-PD1 in MSI-H mCRC: a case report on concurrent infections and ir-AIHA.

Anti-programmed cell death protein 1 (PD-1) therapy has demonstrated notable efficacy in treating patients with deficient mismatch repair/high microsatellite instability (dMMR/MSI-H) metastatic colorectal cancer (mCRC). However, its clinical application is fraught with challenges and can lead to significant immune-related adverse events (ir-AEs). In this report, we present a complicated case of an mCRC patient with MSI-H and mutations in ß2M and LRP1B proteins, complicated by concurrent bacteremia and liver fluke infection, who received first-line anti-PD1 therapy. The patient exhibited a positive response to anti-PD1 treatment, even in the presence of concomitant antibiotic and anti-parasitic interventions. Additionally, the patient experienced immunotherapy-related autoimmune hemolytic anemia (ir-AIHA), a rare hematological ir-AE, which was effectively treated later on. Immunotherapy represents a pivotal and highly effective approach to tumor treatment. Baseline assessment of the MMR and MSI status is a crucial step before initiating immunotherapy, and regular ongoing assessments during the treatment course can facilitate early recognition of any secondary complications, enabling prompt intervention and ensuring optimal therapeutic outcomes. Overall, a multidisciplinary diagnostic and therapeutic algorithm can help maximize the therapeutic benefits of immunotherapy.