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[Rinsho Ketsueki] the Japanese Journal... 2023Bone marrow (BM) failure is a condition characterized by peripheral pancytopenia due to decreased BM function. It includes conditions such as acquired aplastic anemia...
Bone marrow (BM) failure is a condition characterized by peripheral pancytopenia due to decreased BM function. It includes conditions such as acquired aplastic anemia (AA), myelodysplastic syndrome (MDS), and paroxysmal nocturnal hemoglobinuria (PNH). AA is characterized by pancytopenia and BM hypoplasia, and is primarily caused by an autoimmune mechanism involving cytotoxic T cells that damage hematopoietic stem cells (HSCs). Recent genomic research has revealed that patients with AA often exhibit clonal hematopoiesis by HSCs with genetic alterations, such as PIGA, DNMT3A, ASXL1, BCOR/BCORL1, copy-number neutral LOH of chromosome 6p (6pLOH), and HLA class I allele mutations. The genomic landscape of AA is distinct from MDS and age-related clonal hematopoiesis. Most notably, the presence of PNH-type cells and HLA class I allele-lacking cells indicates the presence of HSCs that have escaped from autoimmunity. We recently identified a common nonsense mutation at codon19 (c.19C>T, p.R7X) in exon1 (Exon1mut) of different HLA-A and HLA-B alleles, and HLA-DR loss of hematopoietic stem progenitor cells in AA patients carrying HLA-DR15. These results provide important clues for understanding the immune pathophysiology of BM failure.
Topics: Humans; Pancytopenia; Anemia, Aplastic; Myelodysplastic Syndromes; Hemoglobinuria, Paroxysmal; Hematopoietic Stem Cells
PubMed: 37793865
DOI: 10.11406/rinketsu.64.908 -
European Journal of Haematology Aug 2023Aplastic anemia (AA) is a disease of bone marrow hematopoietic failure, and the main clinical manifestation is pancytopenia. Its pathogenesis is still unclear. In recent... (Review)
Review
Aplastic anemia (AA) is a disease of bone marrow hematopoietic failure, and the main clinical manifestation is pancytopenia. Its pathogenesis is still unclear. In recent years, more research has been done on its immune abnormalities to explain its pathogenesis and less on the hematopoietic microenvironment, but there are still some advances. This article summarizes the research on the hematopoietic microenvironment of AA in recent years to provide new ideas for the clinical treatment of AA.
Topics: Humans; Anemia, Aplastic; Hematopoietic Stem Cells; Pancytopenia
PubMed: 37203325
DOI: 10.1111/ejh.13991 -
Journal of Gastroenterology and... Nov 2022
Review
Topics: Female; Humans; Middle Aged; Hypergammaglobulinemia; Pancytopenia; Plasma Cells; Immunocompromised Host; Gastrointestinal Tract
PubMed: 35288972
DOI: 10.1111/jgh.15820 -
Cureus Oct 2022Background Pancytopenia is more of a manifestation of a spectrum of underlying diseases affecting the bone marrow. Specific treatment relies solely on early diagnosis...
Background Pancytopenia is more of a manifestation of a spectrum of underlying diseases affecting the bone marrow. Specific treatment relies solely on early diagnosis and identification of the accurate etiology. We aimed to generate data on the clinical and etiological profiles of patients diagnosed with pancytopenia. Materials and methods Fifty patients more than 13 years of age with pancytopenia who reported to a tertiary care hospital were included in the study. Thorough clinical examination, hematological investigation, and bone marrow biopsies were performed, and relevant data were recorded and analyzed statistically. Results Pancytopenia was most common in the age group of 25-34 years, with a male preponderance. The most common presenting complaints were fatigue and fever, with pallor present in all patients, followed by splenomegaly and hepatomegaly in a few patients. Aplastic anemia is the most common cause of pancytopenia, followed by megaloblastic anemia and leukemia. Conclusion While fatigue and fever are the most usual symptoms of pancytopenia, clinical pallor, hepatomegaly, and splenomegaly may be evident. Among the several etiologies, aplastic anemia is one of the most common causes of pancytopenia.
PubMed: 36407228
DOI: 10.7759/cureus.30449 -
BMJ Case Reports May 2022A female child hailing from South Asia, India presented with pallor, multiple petechiae and ecchymosis. Based on the clinical picture and demography, the differentials...
A female child hailing from South Asia, India presented with pallor, multiple petechiae and ecchymosis. Based on the clinical picture and demography, the differentials considered were pancytopenia of nutritional origin, acute leukaemia, autoimmune and infective aetiologies. After ruling these out by respective tests, a literature review was done which revealed the possibility of filariasis especially in a patient with eosinophilia which was present in our case. A repeat peripheral blood smear study with a nocturnally drawn sample revealed multiple microfilariae and a diagnosis of filariasis was made. The patient was treated with triple drug therapy of diethylcarbamazine (6 mg/kg), ivermectin (6 µg/kg) and albendazole (400 mg) administered as a single dose. Subsequent haemograms showed improved cell counts. This along with a previous handful of case reports emphasises filariasis as one of the differentials of pancytopenia and should be kept in mind while evaluating for the same, especially in the endemic areas.
Topics: Albendazole; Animals; Child; Diethylcarbamazine; Drug Therapy, Combination; Elephantiasis, Filarial; Female; Filaricides; Humans; Ivermectin; Pancytopenia; Wuchereria bancrofti
PubMed: 35606041
DOI: 10.1136/bcr-2022-248930 -
Pathology, Research and Practice Jul 2019Unexplained cytopenia is one of the most common indications for performing trephine bone marrow (BM) biopsy (BMB). The histopathological examination in this regard must... (Review)
Review
Unexplained cytopenia is one of the most common indications for performing trephine bone marrow (BM) biopsy (BMB). The histopathological examination in this regard must be seen in the broader context of a multimodal approach in order to reach an as entity-specific as possible diagnosis, considering medical history, physical examination, laboratory data, peripheral blood morphology, BM aspiration smear, flow cytometry results and, if indicated, cytogenetics and molecular genetics. The particular irreplaceability of the histopathological work-up and the expectations to the BMB lie especially in the detection of fibrosing and/or focal processes (e.g. localized islets of blasts) and disorders extrinsic to the BM such as e.g. metastases, thrombotic microangiopathies, granulomatous myelitides etc. We propose a systematic combined histopathological pattern-based and blood count-based approach that can be applied in such circumstances to achieve a precise diagnosis or, at least, a clinically useful differential diagnosis, particularly taking into consideration specific morphologic pitfalls and application of ancillary techniques. Constitutional BM failure syndromes will not be profoundly addressed.
Topics: Biopsy; Bone Marrow; Flow Cytometry; Humans; Pancytopenia
PubMed: 31101575
DOI: 10.1016/j.prp.2019.152447 -
The American Journal of the Medical... Feb 2022Methotrexate (MTX) is an effective medication in the treatment of rheumatoid arthritis (RA), other rheumatic diseases and various solid tumors. However, its side... (Review)
Review
Methotrexate (MTX) is an effective medication in the treatment of rheumatoid arthritis (RA), other rheumatic diseases and various solid tumors. However, its side effects, including gastrointestinal discomfort, oral ulcers, and especially bone marrow suppression, could be fatal and require special attention, particularly in patients with renal failure. We present two hemodialysis patients with RA who presented with a complication of severe pancytopenia after treatment with MTX. After receiving various supportive and blood purification treatments, both patients recovered. We reviewed twenty-four pancytopenia patients on dialysis associated with methotrexate. Among these patients, high morbidity and mortality were observed, indicating that MTX should be used cautiously in the absence of alternatives in such a population. Compared with the patients who recovered, the deceased patients showed a lower level of leukocytes. Which dialysis method might be the best choice is unclear. The mode of renal replacement therapy can be chosen according to the actual situation.
Topics: Antirheumatic Agents; Arthritis, Rheumatoid; Humans; Methotrexate; Pancytopenia; Renal Dialysis
PubMed: 34562416
DOI: 10.1016/j.amjms.2021.08.008 -
European Journal of Internal Medicine Oct 2022
Topics: Autoimmune Diseases; Chronic Disease; Epstein-Barr Virus Infections; Exanthema; Humans; Pancytopenia
PubMed: 35798590
DOI: 10.1016/j.ejim.2022.06.021 -
Cureus Oct 2023Blood dyscrasias, including pancytopenia, can rarely occur as adverse effects of antipsychotic drug therapy. While neutropenia is more common, pancytopenia remains an...
Blood dyscrasias, including pancytopenia, can rarely occur as adverse effects of antipsychotic drug therapy. While neutropenia is more common, pancytopenia remains an infrequent but serious hematological complication. We present the case of an 85-year-old African-American female with a history of schizophrenia, stabilized on haloperidol decanoate, who developed pancytopenia during her outpatient care. Her blood counts progressively declined, leading to hospitalization. Hematology evaluation ruled out infectious or neoplastic causes, implicating haloperidol decanoate-induced pancytopenia. The pancytopenia improved gradually over three months after discontinuing haloperidol decanoate. Our case highlights the importance of monitoring and timely intervention in such cases. We discuss the rarity of pancytopenia with antipsychotics and the potential mechanisms and challenging management of this condition.
PubMed: 38022280
DOI: 10.7759/cureus.47402 -
Journal of Clinical Research in... Apr 2023Thyroid storm is a rare but life-threatening condition mainly triggered by infection and abrupt discontinuation of antithyroid drug therapy for Graves' disease....
Thyroid storm is a rare but life-threatening condition mainly triggered by infection and abrupt discontinuation of antithyroid drug therapy for Graves' disease. Pancytopenia is a rare adverse reaction to antithyroid drugs. We present a 13-year-old girl with thyroid storm and pancytopenia with symptoms similar to those of methimazole-induced pancytopenia. Although in this context the use of methimazole is still under debate, due to multiple normal complete blood counts monitored during fever, sepsis-induced pancytopenia with thyroid storm was considered, and methimazole treatment combined with methylprednisolone and meropenem was able to resolve both pancytopenia and thyroid storm. During the period of infection and antithyroid drug therapy, close monitoring of complete blood count may help differentiate the aetiology of pancytopenia. This is the first paediatric case report that outlines the use of methimazole in the management of thyroid storm with pancytopenia.
PubMed: 37074093
DOI: 10.4274/jcrpe.galenos.2023.2022-10-3