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Twin Research and Human Genetics : the... Jun 2016Twin-to-twin transfusion syndrome (TTTS) and twin anemia polycythemia sequence (TAPS) are complications unique to monochorionic twin pregnancies and their shared... (Review)
Review
Twin-to-twin transfusion syndrome (TTTS) and twin anemia polycythemia sequence (TAPS) are complications unique to monochorionic twin pregnancies and their shared circulation. Both are the result of the transfusion imbalance in the intertwin circulation. TTTS is characterized by an amniotic fluid discordance, whereas in TAPS, there is a severe discordance in hemoglobin levels. The article gives an overview of the typical features of TTTS and TAPS placentas.
Topics: Amniotic Fluid; Anemia; Female; Fetofetal Transfusion; Hemoglobins; Humans; Placenta; Polycythemia; Pregnancy; Pregnancy, Twin; Twins, Monozygotic
PubMed: 27098457
DOI: 10.1017/thg.2016.29 -
European Journal of Preventive... May 2022Although the adverse cardiovascular effect of anaemia has been well described, the effect of polycythaemia on the cardiovascular outcomes of the general population...
AIMS
Although the adverse cardiovascular effect of anaemia has been well described, the effect of polycythaemia on the cardiovascular outcomes of the general population remain unclear. The primary objective is to identify the association between polycythaemia and major adverse cardiovascular events (MACE), and the secondary objective is to identify the specific haemoglobin concentration more associated with an increased risk for MACE.
METHODS AND RESULTS
This was a retrospective cohort study, 451 107 subjects were enrolled who underwent national health examinations from the Korean National Sample Cohort. We estimated the risk of MACE, a composite of cardiovascular mortality, incident myocardial infarction (MI), and stroke according to haemoglobin-based four categories. During 3.8-year of follow-up, polycythaemia group showed higher MACE [hazard ratio (HR) = 1.27 (1.13-1.44) and HR = 1.76 (1.08-2.88); in men and women, respectively], incident MI [HR = 1.37 (1.05-1.79) and HR = 3.46 (1.06-14.00)], and incident ischaemic stroke [HR = 1.27 (1.10-1.46) and HR = 1.72 (1.02-2.91)] than normal haemoglobin group (P < 0.001 in all cases). In the normal haemoglobin and polycythaemia groups, a 1 g/dL increase in haemoglobin level was associated with increased risks of MACE [HR = 1.04 (1.01-1.07) and HR = 1.05 (1.01-1.10) in men and women, each P < 0.05]. To investigate the specific haemoglobin concentration related to greater MACE incidence, we analysed the sensitivity/specificity of different haemoglobin levels: ≥16.5 g/dL in men and ≥15.0 g/dL in women showed the highest Youden's index (sensitivity + specificity - 1), with c-indices of 0.82 (0.81-0.83) and 0.83 (0.82-0.84), respectively.
CONCLUSION
Even in the Korean general population, polycythaemia was significantly associated with higher rates of MACE, incident MI, and incident ischaemic stroke. Especially, subjects with haemoglobin levels ≥15.0 g/dL in women and ≥16.5 g/dL among men were associated with increased risks of MACE.
Topics: Brain Ischemia; Female; Humans; Ischemic Stroke; Male; Myocardial Infarction; Polycythemia; Retrospective Studies; Risk Factors; Stroke
PubMed: 33624094
DOI: 10.1093/eurjpc/zwaa071 -
Journal of Obstetrics and Gynaecology... Feb 2020Myomatous erythrocytosis syndrome (MES) is gynaecological condition marked by isolated erythrocytosis and a fibroid uterus. This report presents a case of MES and... (Review)
Review
Myomatous erythrocytosis syndrome (MES) is gynaecological condition marked by isolated erythrocytosis and a fibroid uterus. This report presents a case of MES and reviews common clinical presentations, hematological trends, and patient outcomes. This study was a combined case report and review of published cases of MES. Cases were identified using Medline and EMBASE databases. Binomial statistics were used to compare clinical characteristics among patients with MES. Kruskal-Wallis one-way analysis of variance was used to compare hematological values across time points (Canadian Task Force Classification III). A total of 57 cases of MES were reviewed. The mean age at presentation was 48.7 years. Commonly reported signs or symptoms at presentation include abdominopelvic distension or mass (93%), skin discolouration (33%), and menstrual irregularities (25%). There was no difference in parity (P = 0.42), menopausal status (P = 0.87), or hydronephrosis on imaging (P = 0.48) among patients. Preoperative phlebotomy to reduce the risk of thromboembolic complications was performed in half of all cases. On average, a 51% reduction in serum erythropoietin levels was observed following surgical resection (P = 0.004). In conclusion, patients with MES present with signs and symptoms attributed to either an abdominopelvic mass or erythrocytosis. Preoperative phlebotomy to decrease the severity of erythrocytosis has been used to mitigate the risk of thrombotic complications. Surgical resection of the offending leiomyoma is a valid approach for the treatment of MES.
Topics: Adult; Diagnosis, Differential; Female; Humans; Hysterectomy; Leiomyoma; Parity; Polycythemia; Syndrome; Uterine Neoplasms
PubMed: 30904341
DOI: 10.1016/j.jogc.2018.12.025 -
Journal of Stroke and Cerebrovascular... Jan 2022Patients with polycythemia, either primary or secondary, are at elevated risk for thrombotic complications, including stroke. We aimed to investigate the clinical and...
PURPOSE
Patients with polycythemia, either primary or secondary, are at elevated risk for thrombotic complications, including stroke. We aimed to investigate the clinical and radiological characteristics of cerebrovascular disease (CVD) in polycythemia, and describe other neurologic manifestations.
METHODOLOGY
We conducted a cross-sectional study of patients diagnosed with polycythemia between 2014 and 2019 at a tertiary care center and collected relevant medical data with a special focus on cerebrovascular disease and neurologic manifestations. We performed descriptive and inferential analyses. We have also described and analyzed the available neuroimaging features.
RESULTS
We analyzed data from 56 patients. 20 patients (35.7%) had ischemic stroke. The incidence of CVD was higher in those with primary polycythemia (43%) than in those with secondary polycythemia (8%). The most common subtype of stroke was large vessel disease, and the most common arterial territory was the anterior circulation. There was no statistically significant difference in the hematocrit level between those with or without CVD. Neuroimaging revealed multiple large vessel intracranial stenoses on MR Angiography, and hyperdense vessels on plain CT. Other neurologic manifestations included headache, seizures, dizziness, visual symptoms and papilledema, and these were significantly more common in primary polycythemia.
CONCLUSIONS
CVD is common in patients with polycythemia. The most common type observed was large vessel occlusion, predominantly in the anterior circulation. In stroke patients, multiple vessel stenosis and hyperdense vessels may be clues to polycythemia.
Topics: Cerebrovascular Disorders; Cross-Sectional Studies; Humans; India; Magnetic Resonance Angiography; Polycythemia; Tertiary Care Centers
PubMed: 34785446
DOI: 10.1016/j.jstrokecerebrovasdis.2021.106167 -
European Journal of Paediatric... Nov 2018Fetal stroke is an important cause of cerebral palsy but is difficult to diagnose unless imaging is undertaken in pregnancies at risk because of known maternal or fetal... (Review)
Review
Fetal stroke is an important cause of cerebral palsy but is difficult to diagnose unless imaging is undertaken in pregnancies at risk because of known maternal or fetal disorders. Fetal ultrasound or magnetic resonance imaging may show haemorrhage or ischaemic lesions including multicystic encephalomalacia and focal porencephaly. Serial imaging has shown the development of malformations including schizencephaly and polymicrogyra after ischaemic and haemorrhagic stroke. Recognised causes of haemorrhagic fetal stroke include alloimmune and autoimmune thrombocytopaenia, maternal and fetal clotting disorders and trauma but these are relatively rare. It is likely that a significant proportion of periventricular and intraventricular haemorrhages are of venous origin. Recent evidence highlights the importance of arterial endothelial dysfunction, rather than thrombocytopaenia, in the intraparenchymal haemorrhage of alloimmune thrombocytopaenia. In the context of placental anastomoses, monochorionic diamniotic twins are at risk of twin twin transfusion syndrome (TTTS), or partial forms including Twin Oligohydramnios Polyhydramnios Sequence (TOPS), differences in estimated weight (selective Intrauterine growth Retardation; sIUGR), or in fetal haemoglobin (Twin Anaemia Polycythaemia Sequence; TAPS). There is a very wide range of ischaemic and haemorrhagic injury in a focal as well as a global distribution. Acute twin twin transfusion may account for intraventricular haemorrhage in recipients and periventricular leukomalacia in donors but there are additional risk factors for focal embolism and cerebrovascular disease. The recipient has circulatory overload, with effects on systemic and pulmonary circulations which probably lead to systemic and pulmonary hypertension and even right ventricular outflow tract obstruction as well as the polycythaemia which is a risk factor for thrombosis and vasculopathy. The donor is hypovolaemic and has a reticulocytosis in response to the anaemia while maternal hypertension and diabetes may influence stroke risk. Understanding of the mechanisms, including the role of vasculopathy, in well studied conditions such as alloimmune thrombocytopaenia and monochorionic diamniotic twinning may lead to reduction of the burden of antenatally sustained cerebral palsy.
Topics: Cerebrovascular Disorders; Female; Fetal Growth Retardation; Fetofetal Transfusion; Fetus; Humans; Placenta; Polycythemia; Pregnancy; Pregnancy, Twin; Stroke; Thrombocytopenia; Twins, Monozygotic; Ultrasonography, Prenatal
PubMed: 30467085
DOI: 10.1016/j.ejpn.2018.08.008 -
JPMA. the Journal of the Pakistan... Mar 2021To calculate the incidence of post-transplant erythrocytosis, and to assess the response to treatment.
OBJECTIVE
To calculate the incidence of post-transplant erythrocytosis, and to assess the response to treatment.
METHODS
The prospective study was conducted from April 2016 to April 2018 at the Department of Nephrology, Bahria International Hospital, Lahore, Pakistan, and comprised patients undergoing renal transplantation who were evaluated and followed up for 12 months. Patients having haemoglobin levels ≥17gm/dl were labelled as having polycythemia. Data was analysed using SPSS 21.
RESULTS
Of the 94 total patients, 69(73.4%) were enrolled. During follow-up, 2(2.9%) of them died, and, thus, the final sample stood at 67(71.3%); 57 (85%) males and 10(15%) females. The mean age of the sample was 32.6±8.8 years. Overall, 19(28.4%) patients developed polycythemia and they were either given angiotensin-converting enzyme inhibitors or angiotensin II receptor blockers. Of these 19 patients, 11(57.8 %) responded to the treatment, while 8(42.1%) required phlebotomy. Further, 3(15.7%) patients required one phlebotomy, while 5(26.3%) who had glomerular filtration rate >30% had to have repeated phlebotomy.
CONCLUSIONS
The incidence of post-transplant erythrocytosis was significantly high at 28.4%.
Topics: Adult; Angiotensin-Converting Enzyme Inhibitors; Female; Humans; Kidney Transplantation; Male; Pakistan; Polycythemia; Prospective Studies; Young Adult
PubMed: 34057941
DOI: 10.47391/JPMA.1140 -
Annals of Family Medicine 2023Gender-affirming hormone therapy (GAHT) is safe overall, with few adverse effects. One potential effect from using testosterone for GAHT is an increase in hemoglobin...
PURPOSE
Gender-affirming hormone therapy (GAHT) is safe overall, with few adverse effects. One potential effect from using testosterone for GAHT is an increase in hemoglobin and/or hematocrit, known as secondary erythrocytosis. Current guidelines recommend monitoring hemoglobin or hematocrit routinely in the first year, some as frequently as every 3 months, which can create barriers to care. Our study explored the incidence of erythrocytosis in the first 20 months of testosterone therapy among people receiving gender-affirming care.
METHODS
This is a descriptive fixed cohort study of hematocrit and hemoglobin data from the charts of 282 people taking testosterone for GAHT.
RESULTS
During the first 20 months of testosterone therapy, the cumulative incidence of hematocrit >50.4% was 12.6%, hematocrit >52% was 1.0%, and hematocrit >54% was 0.6%. All people were taking injectable testosterone cypionate, with a median dose of 100 mg weekly.
CONCLUSION
Severe erythrocytosis (hematocrit >54%) is a rare outcome of gender-affirming testosterone therapy. Clinical recommendations should reconsider the need for routine frequent erythrocytosis screening within the first year of testosterone therapy for patients who prefer to minimize laboratory draws.
Topics: Humans; Polycythemia; Cohort Studies; Testosterone; Drug-Related Side Effects and Adverse Reactions; Hemoglobins
PubMed: 37748907
DOI: 10.1370/afm.3018 -
International Journal of Laboratory... Apr 2019Erythrocytosis is characterized by the expansion of erythrocyte compartment including elevated red blood cell number, hematocrit, and hemoglobin content. Familial... (Review)
Review
OBJECTIVES
Erythrocytosis is characterized by the expansion of erythrocyte compartment including elevated red blood cell number, hematocrit, and hemoglobin content. Familial erythrocytosis (FE) is a congenital disorder with different genetic background. Type 1 FE is primary FE caused by mutation in erythropoietin receptor gene (EPOR). Type 2-5 FE are secondary FEs caused by mutations of genes involved in oxygen sensing pathway important for erythropoietin (EPO) regulation. In the present study, we summarized associations between EPOR and EPO gene variations with development of FE and searched for genetic variants located within regulatory regions.
METHODS
Publications reporting EPOR and EPO sequence variants associated with FE or clinical features of erythrocytosis were retrieved from PubMed and WoS. In silico, sequence reanalysis was performed using Ensembl genomic browser, release 89 to screen for variants located within regulatory regions.
RESULTS
To date, 28 variants of the EPOR and seven variants of the EPO gene have been associated with erythrocytosis or upper hematocrit. Sequence variants were also found to be present within regulatory regions.
CONCLUSIONS
Role of variants in regulatory regions of the EPO gene should be further investigated.
Topics: Erythropoietin; Female; Genetic Variation; Humans; Male; Polycythemia; Receptors, Erythropoietin
PubMed: 30507031
DOI: 10.1111/ijlh.12949 -
Medicine Jan 2020We have been examining the Comprehensive Health Check of the Fukushima Health Management Survey of residents of 13 municipalities who were forced by the government to... (Observational Study)
Observational Study
We have been examining the Comprehensive Health Check of the Fukushima Health Management Survey of residents of 13 municipalities who were forced by the government to evacuate due to the 2011 Great East Japan Earthquake (GEJE). Our findings showed that evacuation is a risk factor for polycythemia and suggested that experiencing an unprecedented disaster and exposure to chronic stress due to evacuation might be a cause of polycythemia.We analyzed the relationship between the prevalence of polycythemia and the following factors observed in the Mental Health and Lifestyle Survey in an observational study with a cross-sectional design: traumatic symptoms, depression status, socioeconomic factors such as residential environment, and working situation after the GEJE. Target population of the survey included men and women who were at least 15 years of age and who lived in the evacuation zones specified by the government. Participants analyzed consisted of 29,474 persons (12,379 men and 16,888 women) who had participated in both the 2011 Comprehensive Health Check and Mental Health and Lifestyle Survey from June 2011 through March 2012.The prevalence of polycythemia was not associated with mental states associated with traumatic symptoms (Post-Traumatic Stress Disorder Checklist Scale ≥ 44) and depression status (Kessler 6-item Scale ≥ 13). Furthermore, multivariate analysis showed that there was a tendency for males to develop polycythemia, with characteristics such as being aged 65 years and older, highly educated, obese (body mass index ≥ 25), hypertensive, diabetic, having liver dysfunction, and a smoker being significantly related to the prevalence of polycythemia.Our findings conclusively demonstrated that polycythemia was not significantly related to psychological factors, but was significantly related to the onset of lifestyle-related disease after the GEJE.
Topics: Adult; Aged; Aged, 80 and over; Causality; Comorbidity; Earthquakes; Female; Fukushima Nuclear Accident; Humans; Japan; Life Style; Male; Middle Aged; Polycythemia; Prevalence; Tsunamis; Young Adult
PubMed: 31895781
DOI: 10.1097/MD.0000000000018486 -
Ethiopian Journal of Health Sciences Nov 2023Surgical treatment has transformed the course and outcome of congenital heart defects in high-income countries, but children with congenital heart diseases in...
BACKGROUND
Surgical treatment has transformed the course and outcome of congenital heart defects in high-income countries, but children with congenital heart diseases in sub-Saharan Africa, where access to cardiac surgery is limited, often experience the natural course of untreated lesions and their complications. The objective of this study was to determine the prevalence of hematologic derangements among Ethiopian children with unoperated cyanoticcongenital heart diseases, to identify factors associated with coagulopathy in this population, and to describe how these complications are managed in this setting.
METHODS
In this single-center cross-sectional study, we prospectively collected clinical and demographic data from children (<18 years) with cyanotic congenital heart diseases. Blood samples were collected to measure hematologic parameters. Polycythemia was defined as hematocrit >50% and thrombocytopenia as <150,000 per microliter.
RESULTS
Among 70 children recruited, the overall prevalence of polycythemia and thrombocytopenia was 63% (n=44) and 26% (n=18), respectively. On multivariate logistic regression analysis, hematocrit ≥65% (p-value=.024), and oxygen saturation <85% (p-value=.018) were independently associated with moderate or severe thrombocytopenia. Thirty-one (44%) patients had undergone therapeutic phlebotomy, and 84% (26/31) of these patients received iron supplementation.
CONCLUSION
We report a high prevalence of polycythemia and thrombocytopenia in Ethiopian children with untreated cyanotic congenital heart diseases. There was variable implementation of iron supplementation and therapeutic phlebotomy, highlighting the need to optimize supportive management strategies in this population to mitigate the risk of life-threatening complications.
Topics: Humans; Ethiopia; Female; Heart Defects, Congenital; Male; Cross-Sectional Studies; Polycythemia; Child, Preschool; Infant; Child; Thrombocytopenia; Prevalence; Hematocrit; Cyanosis; Adolescent; Prospective Studies; Phlebotomy
PubMed: 38784485
DOI: 10.4314/ejhs.v33i6.5