-
Frontiers in Immunology 2024
Topics: Humans; Consensus; Anemia, Hemolytic, Autoimmune; Hemoglobinuria, Paroxysmal; Hematologic Diseases
PubMed: 38348043
DOI: 10.3389/fimmu.2024.1364227 -
Frontiers in Immunology 2023Biallelic mutations in the gene cause spondyloenchondrodysplasia with immune dysregulation (SPENCDI). SPENCDI is characterized by the phenotypic triad of skeletal... (Review)
Review
Biallelic mutations in the gene cause spondyloenchondrodysplasia with immune dysregulation (SPENCDI). SPENCDI is characterized by the phenotypic triad of skeletal dysplasia, innate and adaptive immune dysfunction, and variable neurologic findings ranging from asymptomatic brain calcifications to severe developmental delay with spasticity. Immune dysregulation in SPENCDI is often refractory to standard immunosuppressive treatments. Here, we present the cases of two patients with SPENCDI and recalcitrant autoimmune cytopenias who demonstrated a favorable clinical response to targeted JAK inhibition over a period of more than 3 years. One of the patients exhibited steadily rising IgG levels and a bone marrow biopsy revealed smoldering multiple myeloma. A review of the literature uncovered that approximately half of the SPENCDI patients reported to date exhibited increased IgG levels. Screening for multiple myeloma in SPENCDI patients with rising IgG levels should therefore be considered.
Topics: Humans; Tartrate-Resistant Acid Phosphatase; Immunoglobulin G; Janus Kinase 1; Janus Kinase 2; Autoimmune Diseases; Anemia, Hemolytic, Autoimmune; Osteochondrodysplasias; Immunologic Deficiency Syndromes; Thrombocytopenia
PubMed: 38347954
DOI: 10.3389/fimmu.2023.1328005 -
Cureus Jan 2024Autoimmune hemolytic anemia (AIHA) and hemophagocytic lymphohistiocytosis (HLH) are rare complications of infectious mononucleosis. The authors describe a 12-year-old...
Autoimmune hemolytic anemia (AIHA) and hemophagocytic lymphohistiocytosis (HLH) are rare complications of infectious mononucleosis. The authors describe a 12-year-old male with acute infectious mononucleosis, hepatitis, cholestasis, and an autoimmune hemolytic disorder caused by cold agglutinins IgM (anti-i specificity). Clinical deterioration with persistent fever, anemia, and hepatosplenomegaly was consistent with cold AIHA plus concomitant HLH. The patient was treated with corticosteroids and acyclovir, with an uneventful recovery. Although rare, cold agglutinin syndrome and HLH can complicate infectious mononucleosis and should be considered in a patient with clinical deterioration. Corticosteroids are the mainstay treatment of HLH and may be beneficial in infection-associated cold agglutinin syndrome.
PubMed: 38344610
DOI: 10.7759/cureus.52179 -
Archives of Iranian Medicine Sep 2023Alloimmunization against blood group antigens is an important non-infectious complication of blood transfusion, and early detection of these alloantibodies by antibody...
Frequency and Underlying Causes of Alloimmunization Against Red Blood Cell Antigens in Patients Referred to the Blood Bank of the Tertiary Referral Hospital of Tehran from 2018 to 2020.
BACKGROUND
Alloimmunization against blood group antigens is an important non-infectious complication of blood transfusion, and early detection of these alloantibodies by antibody screening before transfusion is crucial. Identifying which underlying factors will affect the occurrence of alloimmunization will be necessary to manage this event as accurately as possible. We aimed to assess the prevalence rate and main determinants of RBC alloimmunization among patients referred to a large referral blood bank in Iran.
METHODS
This retrospective cross-sectional study was conducted on all patients referred to a blood bank at Imam Khomeini Hospital between October 2018 and September 2020. Information was collected by referring to the archives of the hospital information system as well as the documents recorded at the blood bank ward and reviewed by two pathologists and completed documents.
RESULTS
In total, 39270 cases were cross-matched. Accordingly, the frequency of alloimmunization cases was equal to 220 cases, which indicated a prevalence of 0.56%. The most common alloantibodies were anti-K (43.2%, 95% CI: 36.8‒49.5), anti-E (34%, 95% CI: 27.7‒40.5), and anti-C (16.3%, 95% CI: 11.4‒21.4). Among patients with positive alloimmunization, the most common blood groups were blood group B (34.6%), followed by blood group A (34.1%). Most of these patients were Rh-positive (77.3%). In patients with positive alloimmunization, the frequency of hemoglobinopathy was estimated to be 37.7%. Frequent blood transfusions were found in 42.2%, a history of malignancy in 17.3%, graft history in 11.3%, and a history of pregnancy in 35.0%.
CONCLUSION
Alloimmunization was more prevalent and more predictable among patients with hemoglobinopathies and those receiving recurrent transfusions. Therefore, a history of repeated blood transfusions should be regarded as a risk factor contributing to alloimmunization.
Topics: Female; Pregnancy; Humans; Erythrocytes; Isoantibodies; Retrospective Studies; Blood Banks; Tertiary Care Centers; Cross-Sectional Studies; Iran; Anemia, Hemolytic, Autoimmune; Blood Group Antigens
PubMed: 38310405
DOI: 10.34172/aim.2023.75 -
Journal of Veterinary Internal Medicine 2024Relapse is a clinical concern in dogs diagnosed with immune-mediated hemolytic anemia (IMHA), thrombocytopenia (ITP), or polyarthritis (IMPA). The average time to...
BACKGROUND
Relapse is a clinical concern in dogs diagnosed with immune-mediated hemolytic anemia (IMHA), thrombocytopenia (ITP), or polyarthritis (IMPA). The average time to relapse is unknown, and evidence that vaccination is associated with disease relapse is lacking.
HYPOTHESIS/OBJECTIVES
Compare the incidence of relapse in groups of dogs with IMHA, ITP, or IMPA over a 24-month period after diagnosis and compare proportions of dogs that received vaccines in those dogs that did and did not relapse.
ANIMALS
One hundred sixty client-owned dogs (73 with IMHA, 55 with ITP, 32 with IMPA).
METHODS
Medical records of dogs were reviewed with the goal of following cases for a minimum of 2 years. Incidence of relapse was calculated for each disease, and relapse rates in dogs that were or were not vaccinated after diagnosis were compared.
RESULTS
Relapse rates at 12 months differed significantly among disease groups (P = .02), with a higher rate for IMPA (35%) compared to IMHA (11%) or ITP (11%). Relapse rate at 24 months was 41% for IMPA, 18% for IMHA, and 23% for ITP. Ninety percent of IMPA relapses occurred in the first 12 months after diagnosis, compared with 56% for IMHA and 50% for ITP. Vaccine administration after diagnosis was not associated with relapse (P = .78).
CONCLUSIONS AND CLINICAL IMPORTANCE
Risk of disease relapse in IMPA is highest in the first year after diagnosis, with a higher relapse rate compared with IMHA and ITP. The role of vaccination in disease relapse remains unclear.
Topics: Humans; Dogs; Animals; Dog Diseases; Anemia, Hemolytic, Autoimmune; Thrombocytopenia; Arthritis; Recurrence; Organophosphorus Compounds
PubMed: 38308396
DOI: 10.1111/jvim.17004 -
EJIFCC Dec 2023Visceral leishmaniasis is a common tropical infection presenting with a myriad of hematological abnormalities. We report an unusual case of an 11-year-old girl suffering...
Suspect the Unexpected: A Rare Association of Autoimmune Hemolytic Anemia and Hemophagocytic Lymphohistiocytosis with Visceral Leishmaniasis: A Case Report and Review of Literature.
Visceral leishmaniasis is a common tropical infection presenting with a myriad of hematological abnormalities. We report an unusual case of an 11-year-old girl suffering from a febrile illness with hepatosplenomegaly and anemia. Laboratory findings included pancytopenia and hyperbilirubinemia. The leishmania antigen rK39 was positive and bone marrow examination revealed hemophagocytosis and amastigote forms of Leishmania donovani. Direct Coombs' test was positive (warm type, IgG) and LDH was elevated. Tests for other infections were negative. A diagnosis of visceral leishmaniasis with autoimmune hemolytic anemia (warm antibody type, IgG) with hemophagocytic lymphohistiocytosis was made. Patient showed response with anti-leishmanial treatment with improvement in clinical condition.
PubMed: 38303752
DOI: No ID Found -
Clinical Case Reports Feb 2024Zieve's syndrome, associated with chronic alcoholism, manifests as hemolytic anemia, transient hyperlipidemia, and cholestatic jaundice. Key symptoms comprise nausea,...
Zieve's syndrome, associated with chronic alcoholism, manifests as hemolytic anemia, transient hyperlipidemia, and cholestatic jaundice. Key symptoms comprise nausea, abdominal pain, and jaundice. Diagnosis relies on recognizing the triad in those with an alcohol use history. Supportive management includes blood transfusions and alcohol cessation. The exact pathophysiology remains uncertain, with hypotheses ranging from alcohol-induced liver damage to autoimmune processes. The report emphasizes diagnostic complexities, particularly when concurrent with autoimmune disorders such as latent autoimmune diabetes of adults or complicated by disseminated intravascular coagulation (DIC). A 36-year-old male with latent autoimmune diabetes of adults and an 18-year history of chronic alcoholism presented with yellowish skin discoloration, abdominal pain, and distension. Physical examination revealed signs of anemia, jaundice, pedal edema, hepatomegaly, splenomegaly, and abdominal tenderness. Over eight admissions, multiple tests revealed severe anemia, thrombocytopenia, elevated bilirubin, and positive autoantibodies. Treatment for suspected autoimmune hepatitis showed no improvement. Subsequent examinations indicated DIC, altered liver function, and cirrhosis progression. A confirmed diagnosis of Zieve's syndrome was made. Upper gastrointestinal endoscopy was done to check for esophageal varices which were banded. The patient was subsequently managed on supportive treatment with multiple blood transfusions and abstinence from alcohol. Prompt recognition of Zieve's syndrome is crucial to avoid unnecessary interventions. Alcohol cessation is the keystone of treatment, emphasizing the need to raise awareness among practitioners. This case points toward the importance of comprehensive evaluation, serial investigations, and multidisciplinary collaboration for accurate diagnosis and management. Further research is needed to enhance understanding and optimize therapeutic strategies.
PubMed: 38292231
DOI: 10.1002/ccr3.8445 -
An autoantibody to Rh-Ce protein causing positive direct antiglobulin test in a healthy blood donor.Asian Journal of Transfusion Science 2023A positive direct antiglobulin test (DAT) is of diagnostic feature for the patient with autoimmune hemolytic anemia (AIHA). However, on rare occasions, for obscure...
A positive direct antiglobulin test (DAT) is of diagnostic feature for the patient with autoimmune hemolytic anemia (AIHA). However, on rare occasions, for obscure reasons, it is found among healthy blood donors. The present report is aimed to elucidate serological and immunological characteristics of such autoantibody in a healthy donor aged 62 years found with positive DAT. There was no history of Leishmaniasis, nor having a significant illness. His red blood cells (RBCs) showed incompatible cross-match results with every recipient tested in the antiglobulin phase. He was found to be DAT+. As his plasma had very little presence of autoantibody, hence was augmented by elution from his in vivo sensitized RBCs for the study. Autoantibody with immunoglobulin IgG showed predominant specificity of anti-Ce. It is certainly a rare case of autoantibody to RhCe compound antigen yet being innocuous in a healthy blood donor with a positive DAT.
PubMed: 38274962
DOI: 10.4103/ajts.ajts_106_22 -
Cureus Dec 2023Wilson's disease (WD) is an autosomal recessive disorder affecting the metabolism of copper that can present with a variety of clinical symptoms. Low levels of serum...
Wilson's disease (WD) is an autosomal recessive disorder affecting the metabolism of copper that can present with a variety of clinical symptoms. Low levels of serum copper and ceruloplasmin, increased excretion of copper in the urine, and/or increasing quantities of copper in the liver are diagnostic indicators. The gold standard for diagnosis is genetic testing. The care approach includes the utilization of liver transplants as a therapeutic option in advanced patients and the use of copper-chelating medications. We describe a unique case of WD in a 14-year-old girl who presented with ascites, hemolytic anemia, and liver dysfunction. There was no indication of abdominal TB, and her viral, autoimmune, and hemolytic profiles were all normal. Low serum ceruloplasmin, elevated urine copper, and distinctive liver histology all supported the WD diagnosis. After starting penicillamine medication, the patient's symptoms improved, but her blood counts did not. This example emphasizes how crucial it is to rule out WD in patients with chronic liver disease, hemolytic anemia, and unexplained ascites, particularly in younger age groups.
PubMed: 38234952
DOI: 10.7759/cureus.50724 -
Cureus Dec 2023Systemic lupus erythematosus (SLE) is a systemic, autoimmune, multisystem disease. Lupus enteritis accompanied by intestinal pseudo-obstruction (IPO) is a serious and...
Systemic lupus erythematosus (SLE) is a systemic, autoimmune, multisystem disease. Lupus enteritis accompanied by intestinal pseudo-obstruction (IPO) is a serious and rare initial manifestation that can lead to high mortality and morbidity in case of delay in diagnosis and treatment. Here, we present a very complicated case of a 36-year-old female Pakistani patient with lupus enteritis accompanied by IPO and bilateral hydronephroureter. The patient had a three-month history of fever, weight loss, recurrent diarrhea, vomiting, alopecia, and photosensitivity. She had a malar and discoid rash, with signs and symptoms of IPO and neuropsychiatric lupus. Her labs revealed positive anti-nucleosome antibodies (8 U/mL), anti-Ro antibodies (100 U/mL), and anti-La antibodies (53 U/mL); equivocal anti-dsDNA antibodies (7 U/mL) and anti-Sm antibodies (7 U/mL); direct Coomb's positive hemolytic anemia; raised C-reactive protein and erythrocyte sedimentation rate levels; low complement (C3 and C4) levels; and pyuria. IPO was evident on abdominal X-ray and CT scan. Her Systemic Lupus Erythematosus Disease Activity Index was 24, indicating severe disease flare. She was treated with intravenous methylprednisolone, hydroxychloroquine, and intravenous 500 mg cyclophosphamide. Her lab parameters and clinical mini-mental score improved, from 0/30 to 18/30. She was discharged on oral prednisolone 0.5 mg/kg/day, hydroxychloroquine, trimethoprim-sulfamethoxazole (prophylaxis for pneumonia), and mineral and vitamin supplements. She was followed up on the 15th day of discharge for the next dose of cyclophosphamide, and her clinical and lab parameters were normal at that time with gradual improvement in cognition. Lupus enteritis with coexisting IPO and bilateral hydronephroureter poses a diagnostic and therapeutic challenge because of atypical and uncommon manifestations of lupus and overlapping features with intestinal tuberculosis and other inflammatory bowel conditions.
PubMed: 38226118
DOI: 10.7759/cureus.50628