I. Definition

  1. Excessive Red Blood Cell production

II. Epidemiology

  1. Men affected more than women
  2. Median age of onset: 60 years old
  3. Incidence: 2.3 per 100,000 persons per year

III. Pathophysiology

  1. Excessive Red Blood Cell production (erythrocytosis)
  2. Results in increased blood viscosity and Blood Volume
  3. Ultimately results in thrombosis

IV. Causes

  1. Primary Polycythemia
    1. Chronic myeloproliferative disease
  2. Secondary Polycythemia
    1. Tobacco abuse (Smoker's Polycythemia)
    2. Renal Cell Carcinoma
    3. Chronic heart or lung disease
    4. Methemoglobinemia
    5. Living at high altitude
    6. Hydronephrosis
    7. Anabolic Steroid secreting tumor
    8. Erythropoietin secreting tumor
    9. Decreased plasma volume (e.g.. dehydration)

V. Symptoms (thrombotic event on presentation in 20%)

  1. Pruritus after bathing
  2. Cerebral Circulation Impairment
    1. Headache
    2. Tinnitus
    3. Dizziness
    4. Visual disturbance
    5. Transient Ischemic Attack symptoms
    6. Paresthesias
  3. Other associated symptoms
    1. Weight loss
    2. Diaphoresis
    3. Weakness

VI. Signs

  1. See complications below
  2. Plethoric facies
  3. Retinal vein engorgement
  4. Cyanosis
  5. Splenomegaly in 75% of patients

VII. Labs

  1. Red Blood Cell related increases
    1. Elevated Hemoglobin And Hematocrit
      1. White men: Hemoglobin >18 mg/dl (Hematocrit >52%)
      2. Black men: Hemoglobin >16 mg/dl (Hematocrit >47%)
      3. Women: >16 mg/dl (Hematocrit >47%)
    2. Elevated Red Blood Bell count
      1. See diagnosis below
  2. Proliferation of all cell lines (50% of patients)
    1. Thrombocytosis
    2. Leukocytosis

VIII. Diagnosis

  1. Exclude secondary causes of increased RBC Count
  2. Criteria
    1. Major Criteria (first two required)
      1. Increased Red Blood Cell mass
        1. Men: >36 ml/kg
        2. Women: >32 ml/kg
      2. Normal arterial Oxygen Saturation (>92%)
      3. Splenomegaly (or two minor criteria below)
    2. Minor Criteria (two required if no Splenomegaly)
      1. Platelet Count >400 x10^3/uL
      2. Leukocyte count >12 x10^3/uL
      3. Alkaline Phosphatase >100 U/L
      4. Serum Vitamin B12 >900 pg/ml
  3. Experimental diagnostic tools
    1. Endogenous erythroid colony growth in EPO-free medium
    2. Bone Marrow Biopsy: Polycythemia-specific finding
    3. Serum Erythropoietin low
      1. Test Sensitivity: 70%
      2. Test Specificity: 90%

IX. Complications

  1. Accelerated atherosclerotic and thrombotic disease
    1. Cerebrovascular Accident
    2. Myocardial Infarction
    3. Peripheral Vascular Disease
    4. Other rarely affected vessels
      1. Mesenteric thrombosis
      2. Hepatic vein thrombosis or Portal Vein Thrombosis
  2. Hemorrhage
    1. Epistaxis
    2. Acute GI Bleed
  3. Progression to other hematologic disorder
    1. Myelofibrosis (20% of patients)
    2. Leukemia (5% of patients)

X. Management: Myelosuppression

  1. Goal: Keep Hematocrit below threshold
    1. White men: Hematocrit <45%
    2. Black patients and all women: Hematocrit <42%
  2. Age Under 60 years
    1. Low or intermediate risk patients
      1. Repeated phlebotomy
      2. Interferon alfa-2b
      3. Low dose Aspirin (Platelet Count <150 x10^3/uL)
    2. High risk patients
      1. Low or Intermediate Risk Management options (above)
      2. Hydroxyurea
      3. Bisulfan
  3. High risk patients over age 60 years
    1. Repeated phlebotomy
    2. Low dose Aspirin
    3. Hydroxyurea
    4. Busulfan
  4. Women of child bearing age
    1. Low or intermediate risk patients
      1. Repeated phlebotomy
      2. Low dose Aspirin (Platelet Count <150 x10^3/uL)
    2. High risk patients
      1. Low or Intermediate Risk Management options (above)
      2. Interferon alfa-2b
      3. Bisulfan

XII. Prognosis: Median survival in symptomatic patients

  1. Survival without treatment: 6-18 months
  2. Survival with treatment: >10 years

Images: Related links to external sites (from Google)

Ontology: Polycythemia Vera (C0032463)

Definition (NCI) A chronic myeloproliferative neoplasm characterized by an increased red blood cell production. Excessive proliferation of the myeloid lineage is observed as well. The major symptoms are related to hypertension or to vascular abnormalities caused by the increased red cell mass. The cause is unknown. With currently available treatment, the median survival exceeds 10 years. (WHO, 2001)
Definition (CHV) a condition that produces excessive red blood cells
Definition (CHV) a condition that produces excessive red blood cells
Definition (CHV) a condition that produces excessive red blood cells
Definition (CHV) a condition that produces excessive red blood cells
Definition (CHV) a condition that produces excessive red blood cells
Definition (CHV) a condition that produces excessive red blood cells
Definition (CHV) a condition that produces excessive red blood cells
Definition (CHV) a condition that produces excessive red blood cells
Definition (CHV) a condition that produces excessive red blood cells
Definition (CHV) a condition that produces excessive red blood cells
Definition (CHV) a condition that produces excessive red blood cells
Definition (CHV) a condition that produces excessive red blood cells
Definition (CHV) a condition that produces excessive red blood cells
Definition (CHV) a condition that produces excessive red blood cells
Definition (NCI) A disease in which there are too many red blood cells in the bone marrow and blood, causing the blood to thicken. The number of white blood cells and platelets may also increase. The extra blood cells may collect in the spleen and cause it to become enlarged. They may also cause bleeding problems and make clots form in blood vessels.
Definition (MSH) A myeloproliferative disorder of unknown etiology, characterized by abnormal proliferation of all hematopoietic bone marrow elements and an absolute increase in red cell mass and total blood volume, associated frequently with splenomegaly, leukocytosis, and thrombocythemia. Hematopoiesis is also reactive in extramedullary sites (liver and spleen). In time myelofibrosis occurs.
Definition (CSP) myeloproliferative disorder characterized by abnormal proliferation of all hematopoietic bone marrow elements and an absolute increase in red cell mass and total blood volume; associated frequently with splenomegaly, leukocytosis, and thrombocythemia.
Concepts Neoplastic Process (T191)
MSH D011087
ICD9 238.4
ICD10 D45 , M9950/1
SnomedCT 31569001, 134182002, 109992005, 128841001, 154644004, 269652000, 278190000
English Osler Vaquez Disease, Osler-Vaquez Disease, Disease, Osler-Vaquez, ERYTHREMIA, Erythremia, Erythremias, OSLER-VAQUEZ DISEASE, POLYCYTHEMIA, PRIMARY, POLYCYTHEMIA, SPLENOMEGALIC, VAQUEZ-OSLER DISEASE, PPP-Primary prolif polycythaem, Prim proliferat polycythaemia, Prim proliferat polycythemia, Erythraemia, PV, POLYCYTHEMIA RUBRA VERA, POLYCYTHEMIA VERA, PRV, OSLER VAQUEZ DIS, [M]Polycythaemia rubra vera, [M]Polycythaemia vera, [M]Polycythemia rubra vera, [M]Polycythemia vera, polycythemia vera, polycythemia vera (diagnosis), p vera, Polycythaemia vera -RETIRED-, Primary polycythemia, [M]Polycythemia vera (morphologic abnormality), Polycythemia Vera [Disease/Finding], Vera, Polycythemia Rubra, Polycythemia Rubra Veras, Polycythemia Rubra Vera, Veras, Polycythemia Rubra, erythraemia, polycythaemia vera, proliferative polycythemia, vaquez's disease, primary polycythemia, splenomegalic polycythemia, erythrocythemia, osler's disease, Polycythemia rubra vera, Polycythemia vera, Osler's disease, Vaquez's disease, PPP - Primary proliferative polycythaemia, PPP - Primary proliferative polycythemia, PRV - Polycythaemia rubra vera, PRV - Polycythemia rubra vera, Polycythaemia rubra vera, Polycythaemia vera, Primary proliferative polycythaemia, Primary proliferative polycythemia, Chronic erythraemia [obs], Chronic erythremia [obs], Osler-Vaquez syndrome, Polycythaemia vera (clinical), Polycythemia vera (clinical), Polycythemia vera (disorder), Polycythemia vera (morphologic abnormality), Proliferative polycythaemia, Proliferative polycythemia, p.vera, polycythemia ruba vera, Osler-Vaquez, Vaquez-Osler, erythremia, polycythemia; rubra vera, polycythemia; vera, rubra; polycythemia rubra vera, vera; polycythemia, Polycythemia vera -RETIRED-, Polycythemia Vera, Polycythaemia Vera, Primary polycythaemia, Erythremia (morphologic abnormality), polycythaemia rubra vera, polycythemia rubra vera
Dutch primaire polycytemie, polycythaemia rubra vera, polycytemie vera, polycytemie rubra vera, ziekte van Vaquez, polycytemie; rubra vera, polycytemie; vera, rubra; polycythaemia rubra vera, vera; polycythaemia vera, polycythaemia vera, Erythremie, Polycythaemia vera, Vasquez-Osler-ziekte, Ziekte van Vasquez-Osler
French Polyglobulie essentielle, Maladie de Vasquez, Polyglobulie primaire, Polyglobulie primitive, Polycythémie vraie, Polyglobulie primitive essentielle, Maladie de Vaquez, Polyglobulie vraie
German Polycythaemia rubra vera, primaere Polyzythaemie, Vaquez Syndrom, Polycathaemia vera, Polycythaemia vera, Vasquez-Osler-Syndrom, Erythrämie
Italian Policitemia primitiva, Malattia di Vasquez, Malattia di Osler-Vaquez, Eritremia, Policitemia vera
Portuguese Policitemia rubra vera, Policitemia primária, Doença de Vaquez, Policitemia Rubra Vera, Policitemia vera, Doença de Osler-Vasquez, Eritremia, Policitemia Vera
Spanish Policitemia rubra vera, Policitemia primaria, Enfermedad de Vázquez, Policitemia rubra verdadera, Policitemia verdadera, eritremia, eritremia (anomalía morfológica), Polycythaemia vera, Polycythaemia rubra vera, Polycythemia rubra vera, Polycythemia vera, policitemia rubra vera (anomalía morfológica), [M] policitemia vera, Policitemia Rubra Vera, eritremia crónica, eritrocitemia, policitemia proliferativa, policitemia rubra vera, policitemia vera (clínica), policitemia vera (concepto no activo), policitemia vera (trastorno), policitemia vera, policitemia verdadera (anomalía morfológica), policitemia verdadera (clínica), policitemia verdadera (trastorno), policitemia verdadera, síndrome de Osler - Vasquez, Policitemia vera, Enfermedad de Osler-Vaquez, Eritremia, Policitemia Vera
Japanese 原発性多血症, 原発性赤血球増加症, ゲンパツセイタケツショウ, ゲンパツセイセッケッキュウゾウカショウ, バケービョウ, シンセイタケツショウ, シンセイセッケッキュウゾウカショウ, オスラー・ワーケ病, オスラー・バケー病, Osler-Vaquez病, 多血症-真性, 真性多血症, 真性赤血球増加症, 真正多血症, 真正赤血球増加症, 赤血球増加症-真性, 赤血病-慢性, 赤血病, オスラー-ワーケ病, バケー-オスラー病, バケー病, 多血症-真正
Swedish Polycytemia vera
Czech polycythemia vera, Vasquezova choroba, Polycytemia vera, Primární polycytemie, Polycytemia rubra vera
Finnish Itsenäinen polysytemia
Russian ERITREMIIA, OSLERA-VAKEZA BOLEZN', POLITSITEMIIA ISTINNAIA, ОСЛЕРА-ВАКЕЗА БОЛЕЗНЬ, ПОЛИЦИТЕМИЯ ИСТИННАЯ, ЭРИТРЕМИЯ
Korean 진성 적혈구 증가증
Croatian POLICITEMIJA RUBRA VERA
Polish Choroba Oslera-Vaqueza, Czerwienica prawdziwa
Hungarian Polycythaemia rubra vera, Primaer polycythaemia, Vaquez-betegség, Polycytemia rubra vera, Elsődleges polycythaemia, Polycythaemia vera