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Acta Haematologica 2022The diagnosis of polycythemia, particularly the secondary forms, can be challenging. The distinction between primary and secondary polycythemia is relevant and has...
The diagnosis of polycythemia, particularly the secondary forms, can be challenging. The distinction between primary and secondary polycythemia is relevant and has management implications. A systematic diagnostic workup algorithm and a good anamnesis are of paramount relevance. More than one cause may be involved in the development of polycythemia, identifying all of them will be the key to better understanding and eventually solving the polycythemia. We describe a case of a 53-year-old Swiss woman with polycythemia and a high level of carboxyhemoglobin. Her medical story included obesity and obstructive sleep apnea. The anamnesis ruled out the habit of smoking cigarettes; however, the patient reported that she was on a trip to Egypt 10 years before and bought herself a shisha; since then, she used to smoke shisha daily, at home, alone. After drastically reducing and then stopping the shisha smoking, 7 months later her blood count and carboxyhemoglobin completely normalized.
Topics: Humans; Middle Aged; Female; Smoking Water Pipes; Polycythemia; Carboxyhemoglobin; Switzerland; Smoking
PubMed: 35835029
DOI: 10.1159/000526016 -
Genes Jul 2022In high-altitude environments, the prevalence of high-altitude polycythemia (HAPC) ranges between 5 and 18 percent. However, there is currently no effective treatment...
In high-altitude environments, the prevalence of high-altitude polycythemia (HAPC) ranges between 5 and 18 percent. However, there is currently no effective treatment for this condition. Therefore, disease prevention has emerged as a critical strategy against this disease. Here, we looked into the microarray profiles of GSE135109 and GSE29977, linked to either short- or long-term exposure to the Qinghai Tibet Plateau (QTP). The results revealed inhibition in the adaptive immune response during 30 days of exposure to QTP. Following a gene set enrichment analysis (GSEA) discovered that genes associated with HAPC were enriched in Cluster1, which showed a dramatic upregulation on the third day after arriving at the QTP. We then used GeneLogit to construct a logistic prediction model, which allowed us to identify 50 genes that classify HAPC patients. In these genes, and were also significantly altered following early QTP exposure, suggesting that they may serve as hub genes for HAPC development. The in-depth study of a combination of the datasets of transcriptomic changes during exposure to a high altitude and whether diseases occur after long-term exposure in Hans can give us some inspiration about genes associated with HAPC development during adaption to high altitudes.
Topics: Altitude; Altitude Sickness; Humans; Polycythemia; Tibet; Transcriptome
PubMed: 35885976
DOI: 10.3390/genes13071193 -
Annals of Behavioral Medicine : a... Oct 2011Acute psychological stress can produce significant hemoconcentration as well as prothrombotic changes in blood, both of which may have potentially harmful effects on the... (Review)
Review
BACKGROUND
Acute psychological stress can produce significant hemoconcentration as well as prothrombotic changes in blood, both of which may have potentially harmful effects on the cardiovascular system. It is unclear whether these effects are independent or have influence on each other.
PURPOSE
This review discusses research investigating the effects of acute psychological stress on hemoconcentration and hemostasis and explores future directions for psychohematology research. Physiology, associations with cardiovascular disease, and relationships between acute psychological stress are discussed independently for hemoconcentration and hemostasis, followed by an examination of the effects of stress-hemoconcentration on hemostasis.
CONCLUSIONS
Traditional methods of adjusting for stress-hemoconcentration effects (e.g., calculated plasma volume or hematocrit level corrections) may not be appropriate when examining stress-induced changes in hemostasis. The effects of acute stress on hemostasis should be examined in conjunction with hemoconcentration.
Topics: Blood Coagulation; Cardiovascular Diseases; Hematocrit; Hemodynamics; Hemostasis; Humans; Models, Cardiovascular; Polycythemia; Stress, Psychological
PubMed: 21562905
DOI: 10.1007/s12160-011-9274-0 -
Nutrients Nov 2022Hypoxic exposure makes plateau migrators susceptible to high altitude polycythemia (HAPC). (AM) is an edible and medicinal plant with remarkable immunomodulatory...
Hypoxic exposure makes plateau migrators susceptible to high altitude polycythemia (HAPC). (AM) is an edible and medicinal plant with remarkable immunomodulatory activities. The purpose of this study was to discover if AM could be a candidate for the prevention of HAPC and its mechanism. Here, network pharmacology was applied to screen active compounds, key targets, and enriched pathways of AM in the treatment of HAPC. Molecular docking evaluated the affinity between compounds and core targets. Subsequently, the mechanisms of AM were further verified using the hypoxia exposure-induced mice model of HAPC. The network pharmacology analysis and molecular docking results identified 14 core targets of AM on HAPC, which were predominantly mainly enriched in the HIF-1 pathway. In the HAPC animal models, we found that AM inhibited the differentiation of hematopoietic stem cells into the erythroid lineage. It also suppressed the production of erythrocytes and hemoglobin in peripheral blood by reducing the expression of HIF-1α, EPO, VEGFA, and Gata-1 mRNA. Furthermore, AM downregulated the expression of IL-6, TNF-α, and IFN-γ mRNA, thereby alleviating organ inflammation. In conclusion, AM supplementation alleviates hypoxia-induced HAPC in mice, and TNF-α, AKT1, HIF-1α, VEGFA, IL-6, and IL-1B may be the key targets.
Topics: Mice; Animals; Astragalus propinquus; Tumor Necrosis Factor-alpha; Molecular Docking Simulation; Interleukin-6; Network Pharmacology; Altitude Sickness; Polycythemia; RNA, Messenger; Hypoxia; Altitude
PubMed: 36500998
DOI: 10.3390/nu14234968 -
Omics : a Journal of Integrative Biology Jul 2023Erythrocytosis is characterized by an increase in red cells in peripheral blood. Polycythemia vera, the commonest primary erythrocytosis, results from pathogenic...
Erythrocytosis is characterized by an increase in red cells in peripheral blood. Polycythemia vera, the commonest primary erythrocytosis, results from pathogenic variants in in ∼98% of cases. Although some variants have been reported in -negative polycythemia, the causal genetic variants remain unidentified in ∼80% of cases. To discover genetic variants in unexplained erythrocytosis, we performed whole exome sequencing in 27 patients with -negative polycythemia after excluding the presence of any mutations in genes previously associated with erythrocytosis (, , , , , and ). We found that the majority of patients (25/27) had variants in genes involved in epigenetic processes, including and or in genes related to hematopoietic signaling such as and . Based on computational analysis, we believe that variants identified in 11 patients in this study could be pathogenic although functional studies will be required for confirmation. To our knowledge, this is the largest study reporting novel variants in individuals with unexplained erythrocytosis. Our results suggest that genes involved in epigenetic processes and hematopoietic signaling pathways are likely associated with unexplained erythrocytosis in individuals lacking mutations. With very few previous studies targeting -negative polycythemia patients to identify underlying variants, this study opens a new avenue in evaluating and managing -negative polycythemia.
Topics: Humans; Polycythemia; Exome Sequencing; Polycythemia Vera; Mutation
PubMed: 37428608
DOI: 10.1089/omi.2023.0059 -
Hellenic Journal of Nuclear Medicine 2019Fluorine-18 fluorodeoxyglucose positron emission tomography (F-FDG PET) imaging was conceived in the early 1970 by investigators at the University of Pennsylvania as a...
Fluorine-18 fluorodeoxyglucose positron emission tomography (F-FDG PET) imaging was conceived in the early 1970 by investigators at the University of Pennsylvania as a research technique to measure brain metabolism and function by employing a non-invasive imaging approach. Soon after the introduction of whole-body PET instruments, F-FDG was utilized in the assessment of a variety of solid tumors and certain hematological malignancies. Yet, the role of F-FDG in assessing benign and uncommon malignant disorders of the bone marrow has not been investigated to a great extent. Fluorine-18-FDG as a molecular probe has the proven capacity to reflect the abnormal glycolytic activities inherent to a variety of disorders, where such information may serve as a guide to the clinical course of the respective disease. Recent efforts have studied bone marrow and extra-medullary disease activity in certain malignancies like chronic lymphocytic leukemia. Nonetheless, few studies have explored the role of F-FDG in assessing the metabolic basis of benign disorders of red marrow. Moreover, the introduction of novel imaging analysis schemes in recent years has allowed for the global assessment of red marrow disease, which can provide a superior means for characterizing the systemic nature and burden of these disorders. Accordingly, semi-quantitative global analysis techniques as applied to the skeletal structures in F-FDG PET may provide a tool to better understand these complex marrow abnormalities. Functional imaging of red bone marrow may also reveal critical information specifically regarding the extra-medullary extension of such hematological disorders that cannot be assessed by other diagnostic or imaging techniques. Myleoproliferative neoplasms (MPN) are an apt category of hematological disease that confer significantly altered systemic metabolic rates of hematopoietic stem cells (HSC) in the marrow, as such they are primed for exploration with F-FDG PET. The hallmark of such disorders involves the excess production of particular cellular components in blood. After a period of excess production, scar tissue may develop in place of the HSC leading to myleofibrosis and decreased hematopoietic activity. One of the least studied disorders within the larger category of MPN with respect to the nuclear medicine is polycythemia. Polycythemia may be either primary, polycythemia vera (PV), or secondary. PV involves a JAK2+ in HSC which allows for the excessive proliferation of immature erythrocytes and depressed erythropoietin levels as a result. Secondary polycythemia occurs in response to decreased oxygen intake, often as a result of smoking, which results in increased erythropoietin and hematocrit levels. Primary and secondary polycythemia lead to an increase in overall red marrow activity and a diffusion of active red marrow into the appendicular skeleton. Clinical presentation often includes redness or irritation of the skin along with headache, fatigue and excessive bleeding. Based upon the mentioned precedent, it is evident that PET imaging with F-FDG and other tracers will play a meaningful role in assessing diffuse bone marrow disorders such as hematological malignancies and myeloproliferative abnormalities. Semi-quantification studies of global bone marrow activity in such an application will be a vital means in accurately assessing the systematic nature and global burden of such benign hematological disorders such a polycythemia. Accordingly, the derived metabolic data projects to be a useful tool in the prospective clinical and scientific aspects of the diagnosis of these benign hematological disorders and the assessment of disease progression in light of relevant biological treatments. Given the nature of the disease and the enumerated capabilities of F-FDG PET it is expected that one would be able to capture the systematic abnormalities inherent to the disease. Moreover, the handful of case studies supports this possibility. Three case studies have all illustrated diffuse elevated F-FDG uptake throughout the axial and appendicular skeleton that reflects the hyper-metabolic red bone marrow as related to polycythemia. Moreover, the use of various functional imaging tracers, in addition to F-FDG, may indirectly reflect hypermetabolism in red bone marrow through abnormal tracer accumulation in the skeletons of patients. The whole body F-FDG scan of a JAK2+ PV patient before treatment (a) as compared to a matched subject (b) is found below; of note is the PV patient's elevated uptake in the pelvis, femur and spine.
Topics: Fluorodeoxyglucose F18; Humans; Polycythemia; Positron-Emission Tomography; Radiopharmaceuticals
PubMed: 30843002
DOI: 10.1967/s002449910951 -
BMJ Case Reports Oct 2020A 61-year-old man presented to the department of clinical haematology in February 2016 with symptomatic anaemia, generalised lymphadenopathy and hepatomegaly. Routine...
A 61-year-old man presented to the department of clinical haematology in February 2016 with symptomatic anaemia, generalised lymphadenopathy and hepatomegaly. Routine investigations showed severe anaemia with the presence of lymphoplasmacytoid cells in the peripheral smear, and bone marrow examination with IHC and serum protein electrophoresis confirmed diagnosis of lymphoplasmacytic lymphoma. The patient received supportive transfusion therapy and combination chemotherapy. After VI cycles, the patient had a complete haematological response with marrow in remission. Maintenance rituximab was planned every 3 months for 2 years. At the time of first dose of maintenance rituximab, his haemoglobin (Hb) was 189 g/L with low normal erythropoietin level. During the last 3 years follow-up, his Hb ranged between 16.5 and 20.1 g/dL. All causes of secondary polycythaemia were ruled out. Workup for polycythAemia vera (PV), including JAK-2 and bone marrow, was not suggestive of PV. We labelled it as a case of polycythaemia due to undetermined aetiology.
Topics: Antineoplastic Agents; Blood Transfusion; Combined Modality Therapy; Humans; Male; Middle Aged; Polycythemia; Waldenstrom Macroglobulinemia
PubMed: 33127727
DOI: 10.1136/bcr-2020-235687 -
Cleveland Clinic Journal of Medicine Sep 2016
Review
Topics: Adult; Bone Marrow; Diagnosis, Differential; Disease Management; Female; Humans; Janus Kinase 2; Mutation; Phlebotomy; Polycythemia; Polycythemia Vera
PubMed: 27618352
DOI: 10.3949/ccjm.83a.15154 -
Scientific Reports Mar 2022Red cell overproduction is seen in polycythemia vera (PV), a bone marrow myeloproliferative neoplasm characterized by trilinear cell proliferation (WBC, platelets), as...
Red cell overproduction is seen in polycythemia vera (PV), a bone marrow myeloproliferative neoplasm characterized by trilinear cell proliferation (WBC, platelets), as well as in secondary erythrocytosis (SE), a group of heterogeneous disorders characterized by elevated EPO gene transcription. We aimed to verify the concordance of the International Classification of Diseases (ICD) code-based diagnosis of "polycythemia" or "erythrocytosis" with the true clinical diagnosis of these conditions. We retrospectively reviewed the electronic medical records (January 1, 2005, to December 31, 2016) of adult patients with ICD codes of polycythemia and/or erythrocytosis who had testing done for the presence of the JAK2V617F mutation. We verified the accuracy of the ICD code-based diagnoses by meticulous chart review and established whether these patients fulfilled the criteria by the evaluating physician for PV or SE and according to the World Health Organization 2016 diagnostic guidelines. The reliability of ICD coding was calculated using Cohen's kappa. We identified and chart reviewed a total of 578 patient records. Remarkably, 11% of the patients had concurrent diagnosis codes for PV and SE and were unable to be classified appropriately without individual chart review. The ICD code-based diagnostic system led to misidentification in an important fraction of cases. This represents a problem for the detection of PV or SE cases by ICD-based registries and their derived studies. Research based exclusively on ICD codes could have a potential impact on patient care and public health, and limitations must be weighed when research findings are conveyed.
Topics: Adult; Humans; Janus Kinase 2; Polycythemia; Polycythemia Vera; Reproducibility of Results; Retrospective Studies
PubMed: 35304527
DOI: 10.1038/s41598-022-08606-1 -
The Western Journal of Medicine Jan 1985
Topics: Blood Viscosity; Humans; Infant, Newborn; Infant, Newborn, Diseases; Polycythemia; Syndrome
PubMed: 3976217
DOI: No ID Found