Edit concept Question Editor Create issue ticket



Polycythemia is a clinical disorder characterized by a relative increase in the number of red blood cells in the peripheral blood. In this condition, there is an increase in the hemoglobin content, red blood cell count and hematocrit.


Polycythemia can present with the following signs and symptoms:

  • Cytogenetics Molecular a) Fluorescence in situ hybridization (FISH) and molecular studies. Interphase FISH may increase the sensitivity of conventional cytogenetics.[atlasgeneticsoncology.org]
  • Another possibility is that the altered gene might convey advantages in terms of iron metabolism, erythropoiesis, and embryonic development. 2, 3 For instance, improved erythropoiesis could compensate for iron deficiency consequent to a fish-based diet[doi.org]
  • In fact, its frequency in Chuvashia is about 0.057, 3 whereas the worldwide frequency of the Chuvash-associated haplotype is about 0.001 377. 11 The different haplotype recently identified in a patient of Turkish ancestry probably represents an independent[doi.org]
  • As the disease progresses, symptoms include: Shortness of breath Dizziness Itchy or flushed skin Fatigue Headaches A tingling or burning sensation in the hands and feet What causes polycythemia vera? PV begins in the bone marrow.[familydoctor.org]
  • Symptoms Symptoms of PV may include: Fatigue and/or weakness Headache Dizziness Shortness of breath and difficulty breathing while lying down Visual disturbance, such as double vision, blurred vision, and blind spots Inability to concentrate Night sweats Flushed[hopkinsmedicine.org]
  • If the skin is flushed or itchy, particularly after a hot bath, it may indicate a diagnosis of polycythemia. The doctor may also check for a history of smoking or alcohol abuse or a family history of kidney disease.[chealth.canoe.com]
  • […] of energy (fatigue) or weakness Headache Dizziness Shortness of breath and trouble breathing while lying down Vision problems, such as double vision, blurred vision, and blind spots Inability to concentrate Night sweats Face and becomes red and warm (flushed[hopkinsmedicine.org]
Spastic Paralysis
  • One TAPS donor and one TAPS recipient had neurodevelopmental impairment; bilateral deafness at 9.5 years old and spastic paralysis at 2 years old, respectively.[ncbi.nlm.nih.gov]
Expressive Aphasia
  • This is a case of a 55-year-old Ghanaian who presented to our tertiary facility after a 2-month delay with a history of sudden onset of right-sided hemiparesis and expressive aphasia.[ncbi.nlm.nih.gov]


Polycythemia is diagnosed on the basis of clinical features and laboratory findings. The following tests are used in the work up of patients with polycythemia:

  • Complete blood count (CBC): This determines the red cell mass, red cell count and hematocrit among suspected patients. Thrombocyte count and leukocyte count can also be derived from this laboratory test.
  • Leukocyte alkaline phosphatase level: The leukocyte alkaline phosphatase level is generally elevated up to 100U/L in almost 70% of patients of polycythemia. 
  • Routine coagulation tests: Prothrombin time (PT) and activated partial thromboplastin time (aPTT) are temporarily lengthened in polycythemic patients. 
  • Imaging studies: The use of ultrasonography and computed tomography (CT scan) reveals the presence of an splenomegaly in the patients of polycythemia.
Pericardial Effusion
  • The intertwin hemoglobin difference in umbilical cord blood was (21.1-5.0 ) 16.1g/dL and the donor twin showed signs of chronic anemia, including myocardial hypertrophy and pericardial effusion.[ncbi.nlm.nih.gov]
  • Polycythemia is frequently used synonymously with erythrocytosis; however, polycythemia may imply leukocytosis and thrombocytosis, as well as erythrocytosis. Erythrocytosis and Polycythemia Overview of Erythrocytosis and Polycythemia[msdvetmanual.com]
  • Alternative form: polycythaemia Synonyms: erythrocytosis erythrocythemia hypercythemia hypererythrocythemia Compare: anemia , leukocytosis , thrombocytosis .[biology-online.org]
  • Differential diagnosis Differential diagnosis includes elimination of Ph1 negative myeloproliferative disease (MPD) including essential thrombocytosis and agnogenic myeloid metaplasia (see these terms).[orpha.net]
  • Data from prospective and retrospective trials of PV (and essential thrombocytosis) indicate that age 60 or prior history of thrombosis identify individuals with a high risk of vascular complications; lower-risk patients exhibit neither risk factor. 1[hematology.org]
  • Low dose aspirin is necessary to reduce the risk of thrombotic complications. interferon (young patients) or hydroxyurea can be used if cytoreduction is necessary (thrombocytosis, splenomegaly).[atlasgeneticsoncology.org]
  • In the neonatal period, polycythemia-induced hyperviscosity can lead to altered blood flow and can subsequently affect organ function.[emedicine.medscape.com]
  • .  Symptoms of PV are often insidious in onset, and they are often related to blood hyperviscosity.  Symptoms are related to 1. hyperviscosity 2. sludging of blood flow 3. thromboses  which lead to poor oxygen delivery and symptoms that include headache[slideshare.net]
  • Etiology Symptoms are related to blood hyperviscosity, which impairs microcirculation and is caused by a marked increase in the cellular elements of blood.[orpha.net]


Polycythemia can be treated symptomatically by reducing the red blood cell mass by phlebotomy or the physical drainage of blood from a given vein. Patients who have undergone phlebotomy have a decreased chance of developing a thrombosis in the near future [9]. In patients with polycythemia vera, regular phlebotomy may be indicated because of the chronic nature of the disease.

Patients with thicker blood viscosity benefit from the regular intake of low dose aspirin to prevent blood clots. The use of aspirin also addresses the burning sensation of the hands and feet felt by the patients suffering from polycythemia.

Patients are sometimes given hydroxyurea and interferon to control the overproduction of blood cells in the bone marrow [10].

Anti-itch medications like oral anti-histamines may be given to control the itching felt in the palms and soles of patients. Ultraviolet light (UV) has been arbitrarily used to relieve the itch symptoms in the skin.


Polycythemia is a type of chronic disease requiring long term treatment regimen. Individuals who strictly adhere to the treatment can live a healthy life without any complications. Patients with secondary polycythemia (like smokers and asthmatics) have a greatly reduced the risk for cardiovascular events when regular phlebotomy is done.


Polycythemia can either be congenital in nature or can be acquired. The primary type of polycythemia occurs when there is a overproduction of red blood cells by the bone marrow. The most common type of primary polycythemia is known as polycythemia vera. Secondary polycythemia occurs due to certain underlying diseases.

Various factors predispose individuals to developing relative polycythemia. These include obesity, smoking, dehydration and medications such as diuretics and excessive consumption of alcohol [2].


Primary polycythemia is a rare occurrence. It has been estimated that in the United States, there are just about 45 - 57 cases per 100,000 population [3]. Individuals above 60 years of age are at an increased risk of contracting this blood condition. The incidence of primary polycythemia, in individuals younger than 20 years is estimated to be about 0.01%.
Studies have shown that males are more prone to contract this condition than females, with the male to female ratio being 1.2:2.2 [4].

Sex distribution
Age distribution


Mutations that are either acquired or inherited are the primary factors that favor the development of primary polycythemia. Polycythemia vera, which is the most common form of primary polycythemia, occurs as a result of excessive production of red blood cells (RBC's) due to certain abnormalities in the bone marrow [5]. It is a type of myoproliferative disease which is characterized by increased production of myeloid cells [6]. In such cases, excess production of RBC's is also accompanied by excessive production of white blood cells (WBC's) and platelets (thrombocytes). 

Secondary form of polycythemia usually occurs due to an underlying disease condition and is characterized by 6 - 8 million erythrocytes per cubic millimeter of blood. Another factor which greatly triggers the development of polycythemia is the state of reduced oxygen supply, typically seen among chronic smokers and asthmatics. Such conditions cause an increased production of RBC's causing the development of polycythemia.


Patients diagnosed with polycythemia should have regular exercises to prevent blood clot formation and improve blood vessel circulation in the body. Tobacco should be strictly prohibited to prevent polycythemia from recurring. Polycythemic patients are prone to the development of sores in hands and feet. A good wound care is imperative to prevent complications especially in tissues with poor blood circulation.


The condition develops either due to increase in red blood cell count or decrease in plasma volume. In the former case, the condition is referred to as absolute polycythemia; whereas in the latter, it is referred to as relative polycythemia.

Absolute polycythemia is divided into 2 categories; namely, primary and secondary polycythemia. Both of these forms can either be congenital or acquired [1].

Patient Information

Polycythemia is a disorder characterized by an abnormally increased number of red blood cells in the blood. Polycythemia may either occur at birth or later in life secondary to conditions such as smoking, dehydration and obesity. Patients of polycythemia perennially complain of fatigue and disturbed balance. Itching is also a common feature. Headaches and dizziness due to frequent bouts of high blood pressure may also be observed. Blood is reguarly removed from the patients of polycthemia to keep the red cell counts at an acceptable level. Medicines are given to prevent the formation of blood clots and to relieve the symptoms of itching.



  1. Lawrence JH, Berlin NI. Relative polycythemia; the polycythemia of stress. Yale J Biol Med 1952; 24:498.
  2. Smith JR, Landaw SA. Smokers' polycythemia. N Engl J Med 1978; 298:6.
  3. Ma X, Vanasse G, Cartmel B, Wang Y, Selinger HA. Prevalence of polycythemia vera and essential thrombocythemia. Am J Hematol. May 2008; 83(5):359-62.
  4. Streiff MB, Smith B, Spivak JL. The diagnosis and management of polycythemia vera in the era since the Polycythemia Vera Study Group: a survey of American Society of Hematology members' practice patterns.Blood. Feb 15 2002; 99(4):1144-9.
  5. Spivak JL. Polycythemia vera: myths, mechanisms, and management. Blood 2002; 100:4272.
  6. Landolfi R. Bleeding and thrombosis in myeloproliferative disorders. Curr Opin Hematol. Sep 1998; 5(5):327-31.
  7. Chustecka Z. First Drug for Polycythemia Vera Approved by FDA. Medscape Medical News.
  8. Mimouni FB, Merlob P, Dollberg S, Mandel D. Neonatal polycythaemia: critical review and a consensus statement of the Israeli Neonatology Association. Acta Paediatr. Oct 2011; 100(10):1290-6.
  9. Passamonti F. How to manage polycythemia vera. Leukemia. Dec 9 2011.
  10. Berk PD, Goldberg JD, Donovan PB, et al. Therapeutic recommendations in polycythemia vera based on Polycythemia Vera Study Group protocols. Semin Hematol. Apr 1986; 23(2):132-43.

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!
Last updated: 2019-07-11 22:25