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].

• Anemia

  Classifications microcytic, hypochromic anemias hemoglobin, iron deficiencies Megaloblastic (macrocytic) anemias folic acid deficiency Normocytic, normochromic anemias lysing of cells Anemia Lab findings rbc count hgb hematocrit RBC indices peripheral [cueflash.com]

  […] microcytic (hypochromic) anemia 2/3 anemias. [quizlet.com]

  Author information 1 Department of Nephrology and Transplantology, Medical University, Bialystok, Poland. [email protected] Abstract Anemia is a highly prevalent disorder in recipients of renal allografts. [ncbi.nlm.nih.gov]

  Of note, all 4 patients presented with anemia. [academic.oup.com]

• Fatigue

  A 53-year-old woman with severe erythrocytosis (hemoglobin concentration 19.5 g/dl and hematocrit 0.59) was admitted to our hospital because of fatigue and headache. [ncbi.nlm.nih.gov]

  Erythrocytosis can cause symptoms of hyperviscosity, such as headache, fatigue, blurred vision and paresthesias. [cmaj.ca]

  We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: May 12, 2019 [patientslikeme.com]

  Frequent symptoms are fatigue, dizziness, headache, and pruritus. Patients often seek care with symptoms related to peptic ulcer, varicose veins, gouty arthritis, and thrombotic episodes. [annals.org]

  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. [symptoma.com]

• Inflammation

  In these cases, the dermatologist may prescribe the following medications: Ointments or creams contain corticosteroids which suppress the inflammation of the skin. However, corticosteroids can make the skin thin and fragile in the long term. [sarcoidosisuk.org]

  PN1) in acute and inflammatory pain. 61 54 Nassar MA...Wood JN 15314237 2004 14 Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. 54 61 Yang Y...Shen Y 14985375 2004 15 Platelet-mediated microvascular inflammation [malacards.org]

  For erythromelalgia not associated with thrombocythemia, the pathophysiology is less clear, but it is known not to involve platelet-mediated inflammation and thrombosis. [emedicine.medscape.com]

  Abnormally low body temperature 0002045 Leukemia 0001909 Recurrent respiratory infections Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ] 0002205 Vasculitis Inflammation [rarediseases.info.nih.gov]

  The manifestations of neurogenic inflammation and possible sympathetic dysfunction in erythromelalgia are intriguing. [jamanetwork.com]

• Weight Gain

  Common side effects are dizziness, somnolence, dry mouth, and weight gain. The case reports show that this has been used in EM with limited success. 57, 58 Both agents are started at a low dose and titrated to effect. [dovepress.com]

• Nausea

  Hepatic venous thrombosis will present with abdominal distension(ascites), features of liver insufficiency like nausea, vomiting, loss of appetite, yellowish discoloration of eyes, generalized swelling and gastrointestinal bleeding( either as haemoptysis [explainmedicine.com]

  Letrozole was discontinued after a few months due to nausea. She subsequently started exemestane 25 mg daily in September 2010. Prior to commencing exemestane her hemoglobin and hematocrit were normal at 154 g/L and 44.1%, respectively. [hindawi.com]

  She noted some nausea but no other side effects. After a month, the dose was further increased to 300 mg TID for 4 weeks. Given the lack of clinical improvement, mexiletine was tapered and discontinued. [jmedicalcasereports.biomedcentral.com]

  There were also no complications caused by preoperative RAE, such as small groin hematomas or post-infarction syndromes including nausea or flank pain, as mentioned in a previous report [16]. [cancercommun.biomedcentral.com]

• Hypertension

  However, they can cause erythrocytosis and hypertension very frequently, especially in the case of cysts originating from the proximal tubule. [ncbi.nlm.nih.gov]

  Case Report A 31-year-old male was referred to nephrology in view of hypertension, renal dysfunction, proteinuria, and active urinary sediments. [indianjnephrol.org]

  Presentation can be severe and associated with hypertension. [adc.bmj.com]

• 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]

• Irritability

  […] and warm environments Compromise in activities of daily living Several Elevating and applying ice to involved extremity or soaking in cold water Frostbite, “immersion foot”—maceration of skin, ulcerations Muhiddin et al. [14] Capsaicin cream bid Local irritation [academic.oup.com]

• Aphasia

  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]

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].

• Erythrocytosis

  Recently, a HIF-2 alpha Gly537Trp mutation was identified in a family with erythrocytosis. This raises the possibility of HIF2A mutations being associated with other cases of erythrocytosis. [ncbi.nlm.nih.gov]

Despite its frequent occurrence, there is still uncertainty with regard to treatment targets and treatment options. [ncbi.nlm.nih.gov]

Treatment aims to reduce your risk of blood clots and relieve symptoms. It often involves lowering your RBC count. Treatments for erythrocytosis include: Phlebotomy (also called venesection). [healthline.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]

[…] 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]

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]

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]

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]

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]

Angiology (103) Gastroenterology and Hepatology (98) Microbiology (82) Endocrinology, Metabolism (79) Haematology (76) Oncology, Radiation Therapy (75) Neurosurgery (70) Psychiatry, Psychology, Sexology (69) Obstetrics, Gynaecology (64) Nephrology (63) Epidemiology [portal.mefanet.cz]

[…] information on PV, see Epidemiology of Polycythemia vera References References General references used Lee G, Arcasoy MO. [dynamed.com]

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]

The patient was preventively phlebotomized because of intermittent claudication and erythrocytosis. [ncbi.nlm.nih.gov]

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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.