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Erythrocytosis

Erythrocytoses

Erythrocytosis is defined as an abnormally increased red blood cell count, and its occurrence may be seen in various conditions. Laboratory workup confirms the diagnosis.


Presentation

One of the most important conditions in which erythrocytosis is seen is polycythemia vera (PV), characterized by constitutional symptoms (malaise, fatigue, lethargy), weight loss, night sweats and unexplained low-grade fevers [1]. More severe cases present with severe bleeding, such as gastrointestinal or central nervous system hemorrhage [2]. In fact, thrombotic events are an important complication of erythrocytosis and PV, as they can lead to vision loss, swelling and pain in the lower extremities as well [3]. In rare cases, occlusion of the hepatic vein, known as Budd-Chiari syndrome, is encountered in PV patients [4]. Sweating, splenomegaly, bruising, dyspnea, lightheadedness, and pruritus after bathing with hot water are other notable symptoms of PV, while less common complaints are tinnitus, dizziness, paresthesia, and hepatomegaly [3] [4]. A similar clinical presentation may be observed in 10-15% of patients who underwent renal transplantation (post-transplantation erythrocytosis), most frequently after a period of 8-24 months [5]. Individuals who develop erythrocytosis on the grounds of any other condition, including malignant diseases, genetic mutations or heavy smoking, have a similar clinical presentation [3]. Physical examination can reveal red, warm distal extremities and fingers that are painful and exhibit signs of ischemia, known as erythromelalgia [3] [4].

Lymphadenopathy
  • CT scans of thorax, abdomen and pelvis confirmed renal mass 8 8 cm of diameter, suggestive of neoplasm without associated lymphadenopathy or metastases.[ncbi.nlm.nih.gov]
Difficulty Walking
  • CASE REPORT: A 43-year-old male with a history of 5 years of erythrocytosis presented with severe headache, orthostatic dizziness, and difficulty walking.[ncbi.nlm.nih.gov]
Facial Redness
  • We report a case of 53-years-old woman presented with androgenic alopecia, hirsutism, facial redness and hoarse voice. She was a non-smoker and had a history of well-controlled diabetes mellitus type 2.[endocrine-abstracts.org]
Aphasia
  • Abstract A 67-year-old woman with a history of hypertension and type 2 diabetes mellitus was admitted to the hospital due to aphasia and left-sided hemiparesis during the past 5 h with resolution of symptoms within 24 h.[ncbi.nlm.nih.gov]

Workup

Physical examination may not always provide sufficient information to make the diagnosis, given the fact that symptoms are nonspecific, which is why patient history and laboratory workup are important constituents when determining the cause of erythrocytosis. Recent travel or permanent residence on high altitudes is one of the physiological causes of increased RBC count, while cigarette smoking or the abuse of erythropoietin (EPO) in professional athletes, especially in cyclists, are also the other risk factors. To confirm erythrocytosis, a complete blood count should show one of the following: an increase in red cell mass of more than 25% of normal values; haemoglobin values > 18 mg/dL for men and > 16 mg/dL for women or hematocrit above the 99th percentile of reference range for age, gender or altitude of residence [1]. Additional tests may be necessary to define the etiology. Both leukocytosis and thrombocytosis, in addition to erythrocytosis, makes PV a definite cause [4]. In addition, EPO levels are a very useful tool in recognizing the nature of erythrocytosis [6] [7]. If EPO levels are subnormal, it is associated with genetic mutations of erythroid progenitor cells that induce a higher rate of red blood cell production, which occurs in the groups of erythropoietin receptor and JAK 2 mutations [7]. Normal or elevated levels of EPO, on the other hand, suggest a secondary cause, and subsequent testing to determine hemoglobin affinity for oxygen (p50) is necessary [1]. Normal p50 values suggest either 2,3 biphosphoglycerate (2,3 BPG) deficiency, while Von Hippel-Lindau (VHL) and hypoxia-inducible factor 1-alpha (HIF-1α) mutations are possible causes of increased p50 values [1].

Hyperprolactinemia
  • The hyperprolactinemia was bromocriptine resistant, despite gradual increase of the dosage to 30 mg/day.[ncbi.nlm.nih.gov]
Decreased Vital Capacity
  • Although the presence of hypoxemia and decreased vital capacity were strongly associated with excessive erythrocytosis, being overweight or having metabolic syndrome were associated with an important fraction of cases in our study population.[ncbi.nlm.nih.gov]

Treatment

  • Despite its frequent occurrence, there is still uncertainty with regard to treatment targets and treatment options.[ncbi.nlm.nih.gov]
  • Our review of medical literature about prevalence and pathophysiology of PTE suggests that approximately 22% of patients with PTE are refractory to ACEi/ARB treatment.[ncbi.nlm.nih.gov]
  • BACKGROUND: Phlebotomy has been used as a primary method for the treatment of erythrocytosis.[ncbi.nlm.nih.gov]
  • An association between elevated hematocrit and thrombosis has been established in PV patients, and treatment guidelines recommend maintaining hematocrit[ncbi.nlm.nih.gov]
  • Demographic data, testosterone therapy formulation and duration of treatment, and 5α-reductase inhibitor use were assessed.[ncbi.nlm.nih.gov]

Prognosis

  • We demonstrate an inverse relationship between EPO production and overall prognosis in our cohort of 664 patients as well as in data from The Cancer Genome Atlas.[ncbi.nlm.nih.gov]
  • […] findings increased RBC, WBC, platelets NRBC: pushed out early metarubricytes rubricytes poikilocytes, tear drop cells (pushing into tiny vessels) hypercellular bone marrow decreased erythropoietin (s Erythrocytosis: Polycythemia vera - Treatment and prognosis[cueflash.com]
  • Prognosis of polycythemia Rubra Vera Mostly prognosis is good and the median survival is 10 to 16 years. The major complications are thrombosis and hemorrhage.[labpedia.net]
  • - an autoimmune B cell process. most acquired, idiopathic - drug related (dilantin), post inf (parvovirus), or thymoma related - treatment: immune therapy, transfusions (deal w/ Fe overload) - prognosis: survival 10 yrs anemia of BM failure (underprod[quizlet.com]
  • Prognosis Primary familial polycythemia does not necessarily carry an adverse prognosis in early life and most patients have a benign clinical course, but it is associated with an increased risk of thrombosis and vascular mortality in later life.[orpha.net]

Etiology

  • In spite of the seven genes known to be involved in CE, the majority of the cases have unknown etiology. 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.[ncbi.nlm.nih.gov]
  • The literature pertaining to the determination of its etiology specifically by hemoglobin variant analysis is limited.[ncbi.nlm.nih.gov]
  • A thorough medical history and meticulous physical examination supplemented by a focused initial laboratory evaluation will enable the general practitioner to ascertain the etiology of erythrocytosis in the majority of cases.[ncbi.nlm.nih.gov]
  • Erythrocytosis: Polycythemia vera (primary) - Etiology Disease of high absolute cells, produces more stem cells, or differentiate everything. increase in all blood cell types myeloproliferative disease Erythrocytosis: Polycythemia vera - Clinical features[cueflash.com]
  • Humans Leukemia, Myelogenous, Chronic, BCR-ABL Positive/complications* Leukemia, Myelogenous, Chronic, BCR-ABL Positive/therapy Leukemia, Myeloid, Acute/complications* Leukemia, Myeloid, Acute/therapy Male Middle Aged Polycythemia/diagnosis Polycythemia/etiology[ncbi.nlm.nih.gov]

Epidemiology

  • Summary Epidemiology Prevalence is unknown. Clinical description The hematological disorder is present at birth but the clinical symptoms, if they develop, can be discovered at any time during childhood or adulthood.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • Despite recent expanding knowledge about the molecular abnormalities involved in renal bicarbonate (HCO3-) and H transport, the pathophysiology of secondary erythrocytosis in association with distal RTA remains obscure.[ncbi.nlm.nih.gov]
  • Abstract Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed[ncbi.nlm.nih.gov]
  • Our review of medical literature about prevalence and pathophysiology of PTE suggests that approximately 22% of patients with PTE are refractory to ACEi/ARB treatment.[ncbi.nlm.nih.gov]
  • Studies by next generation sequencing methodologies are already being performed and it is expected the identification of other genes involved in the pathophysiology of the CE. 2018 John Wiley & Sons Ltd.[ncbi.nlm.nih.gov]
  • So far, there is no complete understanding of the underlying pathophysiology; however, there seem to be multiple possible reasons for an increased erythropoietin level.[ncbi.nlm.nih.gov]

Prevention

  • Furthermore, close clinical follow-up with phlebotomies on demand and regular intake of low doses of anticoagulants seem to prevent from serious complications such as thrombembolic events and pulmonary hypertension.[ncbi.nlm.nih.gov]
  • The patient was preventively phlebotomized because of intermittent claudication and erythrocytosis.[ncbi.nlm.nih.gov]
  • PTE must be recognised early to prevent major thromboembolic events. We present a case of PTE that was refractory to blockade of renin-angiotensin system (RAS) by ACEi and ARB and required phlebotomy for control of hct.[ncbi.nlm.nih.gov]
  • Lower 17beta-HSD activity via Δ4-steroid production in men with erythrocytosis at HA may protect against elevated serum testosterone levels, thus preventing EE.[ncbi.nlm.nih.gov]
  • Mild sleep-disordered breathing and oxidative stress are evident in preclinical CMS, suggesting that the resolution of nocturnal hypoxemia or antioxidant treatment may prevent disease progression. Copyright 2013 Elsevier B.V. All rights reserved.[ncbi.nlm.nih.gov]

References

Article

  1. Tefferi A, Barbui T. Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management. Am J Hematol. 2015;90(2):162-173.
  2. Cario H, McMullin MF, Pahl HL. Clinical and hematological presentation of children and adolescents with polycythemia vera. Ann Hematol 2009;88:713–719.
  3. Porter RS, Kaplan JL. Merck Manual of Diagnosis and Therapy. 19th Edition. Merck Sharp & Dohme Corp. Whitehouse Station, N.J; 2011.
  4. Stuart BJ, Viera AJ. Polycythemia vera. Am Fam Physician. 2004;69(9):2139-2144.
  5. Vlahakos DV, Marathias KP, Agroyannis B, Madias NE. Posttransplant erythrocytosis. Kidney Int. 2003;63(4):1187-1194.
  6. Mossuz P, Girodon F, Donnard M, et al. Diagnostic value of serum erythropoietin level in patients with absolute erythrocytosis. Haematologica. 2004;89(10):1194-1198.
  7. Percy MJ, Furlow PW, Beer PA, Lappin TRJ, McMullin MF, Lee FS. A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. Blood. 2007;110(6):2193-2196.

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Last updated: 2018-06-22 10:29