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American Journal of Clinical Pathology Jun 2020To evaluate therapeutic phlebotomy (TP) requests for testosterone replacement therapy (TRT) and to highlight the impact to a blood center (BC) or service that provides...
OBJECTIVES
To evaluate therapeutic phlebotomy (TP) requests for testosterone replacement therapy (TRT) and to highlight the impact to a blood center (BC) or service that provides TP for individuals on TRT.
METHODS
Review of TP requests for individuals on TRT at our BC over a 3-year period from 2014 through 2016, as well as the total number of TP collections.
RESULTS
Total TPs during 2014, 2015, and 2016 were 475, 500, and 569, respectively. Annual TP collections for patients on TRT were 193, 212, and 239, respectively. TRT patients with TP orders increased 71.4% during this period. After discontinuation of TP services for TRT at our BC, 32% continued to donate as volunteer blood donors at our BC.
CONCLUSIONS
Our BC observed increased TP requests for patients on TRT from 2014 through 2016. Our findings suggest that individuals on TRT may be presenting to BCs as volunteer blood donors to avoid charges for TP.
Topics: Adult; Androgens; Blood Donors; Humans; Male; Middle Aged; Phlebotomy; Polycythemia; Testosterone
PubMed: 32134468
DOI: 10.1093/ajcp/aqaa019 -
Genes Jul 2021Patients with idiopathic erythrocytosis are directed to targeted genetic testing including nine genes involved in oxygen sensing pathway in kidneys, erythropoietin... (Review)
Review
Patients with idiopathic erythrocytosis are directed to targeted genetic testing including nine genes involved in oxygen sensing pathway in kidneys, erythropoietin signal transduction in pre-erythrocytes and hemoglobin-oxygen affinity regulation in mature erythrocytes. However, in more than 60% of cases the genetic cause remains undiagnosed, suggesting that other genes and mechanisms must be involved in the disease development. This review aims to explore additional molecular mechanisms in recognized erythrocytosis pathways and propose new pathways associated with this rare hematological disorder. For this purpose, a comprehensive review of the literature was performed and different in silico tools were used. We identified genes involved in several mechanisms and molecular pathways, including mRNA transcriptional regulation, post-translational modifications, membrane transport, regulation of signal transduction, glucose metabolism and iron homeostasis, which have the potential to influence the main erythrocytosis-associated pathways. We provide valuable theoretical information for deeper insight into possible mechanisms of disease development. This information can be also helpful to improve the current diagnostic solutions for patients with idiopathic erythrocytosis.
Topics: Humans; Infant, Newborn; Infant, Newborn, Diseases; Polycythemia
PubMed: 34440324
DOI: 10.3390/genes12081150 -
Minerva Pediatrics Feb 2024Polycythemia is a disorder with several causes and risk factors. The clinical presentation is variable, ranging from asymptomatic newborns to cases with severe...
BACKGROUND
Polycythemia is a disorder with several causes and risk factors. The clinical presentation is variable, ranging from asymptomatic newborns to cases with severe physiological changes. The aim of this study was to assess the prevalence, risk factors and predictors of severity of polycythemia in a Portuguese level III Neonatal Intensive Care Unit (NICU).
METHODS
Case-control study of all term newborns with the diagnosis of polycythemia admitted to the NICU of the São João Universitary Hospital Center, Porto, Portugal, from January 1, 1999 to December 31, 2019; and who met one of the following inclusion criteria were eligible for the study: 1) Hct>65% or Hb>22 g/dL; and 2) Hb≥21 g/dL with clinical manifestations of polycythemia.
RESULTS
A total of 53 newborns fulfilled the inclusion criteria and were included in the study, corresponding to a prevalence of 0.57%. Birth outside the hospital was the only risk factor with statistical significance. Of 53 cases, 51 (96.23%) had symptomatic polycythemia. The most frequent symptoms were: hyperbilirubinemia (69.81%), hypoglycemia (52.83%), thrombocytopenia (50.94%), cardiorespiratory (33.96%), and neurological symptoms (33.96%). Of the 53 newborns evaluated, 41 (77.36%) needed treatment. The only risk factors that influenced the hematocrit value were maternal diabetes and fetal growth restriction.
CONCLUSIONS
The best way to improve the prognosis of polycythemia is to identify the risk factors present throughout pregnancy and make an early diagnosis and treatment. Out-of-hospital births should be avoided. The diagnosis should not be excluded, even if hemoglobin and hematocrit are within normal limits.
Topics: Pregnancy; Female; Humans; Infant, Newborn; Polycythemia; Case-Control Studies; Prevalence; Hematocrit; Infant, Newborn, Diseases; Hemoglobins; Risk Factors
PubMed: 38376233
DOI: 10.23736/S2724-5276.21.05851-1 -
Journal of Applied Physiology... Jun 2023We sought to determine the effects of three treatments on hemoglobin (Hb) levels in patients with chronic mountain sickness (CMS): ) descent to lower altitude, )...
We sought to determine the effects of three treatments on hemoglobin (Hb) levels in patients with chronic mountain sickness (CMS): ) descent to lower altitude, ) nocturnal O supply, ) administration of acetazolamide. Nineteen patients with CMS living at an altitude of 3,940 ± 130 m participated in the study, which consisted of a 3-wk intervention phase and a 4-wk postintervention phase. Six patients spent 3 wk at an altitude of 1,050 m (low altitude group, LAG), six received supplemental oxygen for 12 h overnight (oxygen group, OXG), and seven received 250 mg of acetazolamide daily (acetazolamide group, ACZG). Hemoglobin mass (Hbmass) was determined using an adapted carbon monoxide (CO) rebreathing method before, weekly during, and 4 wk postintervention. Hbmass decreased by 245 ± 116 g ( < 0.01) in the LAG and by 100 ± 38 g in OXG, and 99 ± 64 g in ACZG ( < 0.05, each), respectively. In LAG, hemoglobin concentration ([Hb]) decreased by 2.1 ± 0.8 g/dL and hematocrit by 7.4 ± 2.9% (both < 0.01), whereas OXG and ACZG only trended toward lower values. Erythropoietin concentration ([EPO]) decreased between 81 ± 12% and 73 ± 21% in LAG at low altitude ( < 0.01) and increased by 161 ± 118% 5 days after return ( < 0.01). In OXG and ACZG, the [EPO] decrease was ∼75% and ∼50%, respectively, during the intervention ( < 0.01). Descent to low altitude (from 3,940 m to 1,050 m) is a fast-acting measure for the treatment of excessive erythrocytosis in patients with CMS, reducing Hbmass by 16% within 3 wk. Nighttime oxygen supplementation and daily acetazolamide administration are also effective, but reduce Hbmass by only 6%. To our knowledge, this is the first study examining the effect of three different treatments [descending to lower altitude (from 3,900 m to 1,050 m), nocturnal oxygen supply, and administration of acetazolamide] on changes in hemoglobin mass in patients experiencing chronic mountain sickness (CMS). We report that descent to low altitude is a fast-acting measure for the treatment of excessive erythrocytosis in patients with CMS, reducing Hbmass by 16% within 3 wk. Nighttime oxygen supplementation and daily acetazolamide administration are also effective, but reduce Hbmass by only 6%. In all three treatments, the underlying mechanism is a reduction in plasma erythropoietin concentration due to higher oxygen availability.
Topics: Humans; Altitude Sickness; Polycythemia; Altitude; Acetazolamide; Erythropoietin; Hemoglobins; Oxygen
PubMed: 37055035
DOI: 10.1152/japplphysiol.00076.2023 -
Genes Feb 2022Von Hippel-Lindau disease (VHL disease or VHL syndrome) is a familial multisystem neoplastic syndrome stemming from germline disease-associated variants of the tumor... (Review)
Review
Von Hippel-Lindau disease (VHL disease or VHL syndrome) is a familial multisystem neoplastic syndrome stemming from germline disease-associated variants of the tumor suppressor gene on chromosome 3. VHL is involved, through the EPO-VHL-HIF signaling axis, in oxygen sensing and adaptive response to hypoxia, as well as in numerous HIF-independent pathways. The diverse roles of VHL confirm its implication in several crucial cellular processes. VHL variations have been associated with the development of VHL disease and erythrocytosis. The association between genotypes and phenotypes still remains ambiguous for the majority of mutations. It appears that there is a distinction between erythrocytosis-causing VHL variations and VHL variations causing VHL disease with tumor development. Understanding the pathogenic effects of variants might better predict the prognosis and optimize management of the patient.
Topics: Genotype; Humans; Mutation; Polycythemia; Von Hippel-Lindau Tumor Suppressor Protein; von Hippel-Lindau Disease
PubMed: 35205407
DOI: 10.3390/genes13020362 -
Practical Neurology Mar 2024We report two patients with chorea associated with polycythaemia vera, in whom the haematocrit and haemoglobin were within the reference range. Polycythaemia vera is...
We report two patients with chorea associated with polycythaemia vera, in whom the haematocrit and haemoglobin were within the reference range. Polycythaemia vera is potentially easily treatable and so is important to consider in people developing late-onset chorea.
Topics: Humans; Polycythemia Vera; Chorea
PubMed: 37891000
DOI: 10.1136/pn-2023-003739 -
Journal of Veterinary Internal Medicine Jul 2022Prolonged tissue hypoxia caused by chronic pulmonary disease is commonly regarded as an important mechanism in the development of secondary polycythemia, but little...
BACKGROUND
Prolonged tissue hypoxia caused by chronic pulmonary disease is commonly regarded as an important mechanism in the development of secondary polycythemia, but little clinical data are available to support this hypothesis.
OBJECTIVE
To study the prevalence and severity of erythrocytosis accompanying chronic hypoxic pulmonary disease in dogs.
ANIMALS
Forty-seven dogs with hypoxic chronic pulmonary disease, 27 dogs with nonhypoxic chronic pulmonary disease, and 60 healthy controls.
METHODS
Dogs with chronic pulmonary disease and chronic hypoxemia (partial pressure of arterial oxygen [PaO ] < 80 mm Hg on at least 2 arterial blood gas measurements a minimum of 1 month apart) were identified retrospectively from patient records. Association between arterial oxygen and red blood cell parameters was analyzed using Pearson's correlation coefficients and multivariable linear regression analysis.
RESULTS
Red blood cell parameters measured at the end of the hypoxemia period were within the laboratory reference range in most dogs. In chronically hypoxemic dogs, hematocrit (Hct) was increased in 4/47 (8.5%; 95% confidence interval [CI], 0-17) dogs, erythrocyte count (Erytr) was increased in 12/47 (26%; 95%CI, 13-38) dogs and hemoglobin concentration (Hb) was increased in 3/47 (6.4%; 95%CI, 0-14) dogs. No marked polycythemia (Hct ≥65%) was noted in any of the dogs. Red blood cell parameters were not associated with the severity of hypoxemia (correlation to PaO : Erytr, r = -.14; Hb, r = -.21; Hct, r = -.14; P > .05 for all).
CONCLUSIONS AND CLINICAL IMPORTANCE
Polycythemia is uncommon, and usually mild if present, in dogs with chronic hypoxia caused by pulmonary disease.
Topics: Animals; Dog Diseases; Dogs; Hypoxia; Lung Diseases; Oxygen; Polycythemia; Retrospective Studies
PubMed: 35702817
DOI: 10.1111/jvim.16466 -
Innere Medizin (Heidelberg, Germany) May 2024The case of a male patient with newly diagnosed polycythemia vera showing rare and unusually rapid progression with phenotypic change towards chronic myelomonocytic...
The case of a male patient with newly diagnosed polycythemia vera showing rare and unusually rapid progression with phenotypic change towards chronic myelomonocytic leukemia is presented. The case report illustrates remarkably rapid disease progression including a structural change in usually indolent polycythemia vera and highlights the prognostic relevance of enhanced molecular genetic testing.
PubMed: 38777881
DOI: 10.1007/s00108-024-01714-2 -
Frontiers in Endocrinology 2023Insulin resistance (IR) with associated compensatory hyperinsulinemia (HI) are early abnormalities in the etiology of prediabetes (preT2D) and type 2 diabetes (T2D). IR... (Observational Study)
Observational Study
BACKGROUND
Insulin resistance (IR) with associated compensatory hyperinsulinemia (HI) are early abnormalities in the etiology of prediabetes (preT2D) and type 2 diabetes (T2D). IR and HI also associate with increased erythrocytosis. Hemoglobin A1c (HbA1c) is commonly used to diagnose and monitor preT2D and T2D, but can be influenced by erythrocytosis independent of glycemia.
METHODS
We undertook bidirectional Mendelian randomization (MR) in individuals of European ancestry to investigate potential causal associations between increased fasting insulin adjusted for BMI (FI), erythrocytosis and its non-glycemic impact on HbA1c. We investigated the association between the triglyceride-glucose index (TGI), a surrogate measure of IR and HI, and glycation gap (difference between measured HbA1c and predicted HbA1c derived from linear regression of fasting glucose) in people with normoglycemia and preT2D.
RESULTS
Inverse variance weighted MR (IVWMR) suggested that increased FI increases hemoglobin (Hb, b=0.54 ± 0.09, p=2.7 x 10), red cell count (RCC, b=0.54 ± 0.12, p=5.38x10) and reticulocyte (RETIC, b=0.70 ± 0.15, p=2.18x10). Multivariable MR indicated that increased FI did not impact HbA1c (b=0.23 ± 0.16, p=0.162) but reduced HbA1c after adjustment for T2D (b=0.31 ± 0.13, p=0.016). Increased Hb (b=0.03 ± 0.01, p=0.02), RCC (b=0.02 ± 0.01, p=0.04) and RETIC (b=0.03 ± 0.01, p=0.002) might modestly increase FI. In the observational cohort, increased TGI associated with decreased glycation gap, (i.e., measured HbA1c was lower than expected based on fasting glucose, (b=-0.09 ± 0.009, p<0.0001)) in people with preT2D but not in those with normoglycemia (b=0.02 ± 0.007, p<0.0001).
CONCLUSIONS
MR suggests increased FI increases erythrocytosis and might potentially decrease HbA1c by non-glycemic effects. Increased TGI, a surrogate measure of increased FI, associates with lower-than-expected HbA1c in people with preT2D. These findings merit confirmatory studies to evaluate their clinical significance.
Topics: Humans; Blood Glucose; Carcinoma, Renal Cell; Diabetes Mellitus, Type 2; Fasting; Glucose; Glycated Hemoglobin; Hyperinsulinism; Insulin; Insulin Resistance; Kidney Neoplasms; Mendelian Randomization Analysis; Polycythemia
PubMed: 37008938
DOI: 10.3389/fendo.2023.1146099 -
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