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Polycythemia Rubra VeraAka: Polycythemia Vera
- Definition
- Excessive Red Blood Cell production
- Epidemiology
- Men affected more than women
- Median age of onset: 60 years old
- Incidence: 2.3 per 100,000 persons per year
- Pathophysiology
- Excessive Red Blood Cell production (erythrocytosis)
- Results in increased blood viscosity and blood volume
- Ultimately results in thrombosis
- Causes
- Primary Polycythemia
- Chronic myeloproliferative disease
- Secondary Polycythemia
- Tobacco abuse (Smoker's Polycythemia)
- Renal Cell Carcinoma
- Chronic heart or lung disease
- Methemoglobinemia
- Living at high altitude
- Hydronephrosis
- Anabolic Steroid secreting tumor
- Erythropoietin secreting tumor
- Decreased plasma volume (e.g.. dehydration)
- Primary Polycythemia
- Symptoms (thrombotic event on presentation in 20%)
- Pruritus after bathing
- Cerebral Circulation Impairment
- Headache
- Tinnitus
- Dizziness
- Visual disturbance
- Transient Ischemic Attack symptoms
- Paresthesias
- Other associated symptoms
- Weight loss
- Diaphoresis
- Weakness
- Signs
- See complications below
- Plethoric facies
- Retinal vein engorgement
- Cyanosis
- Splenomegaly in 75% of patients
- Labs
- Red Blood Cell related increases
- Elevated Hemoglobin and Hematocrit
- White men: Hemoglobin >18 mg/dl (Hematocrit >52%)
- Black men: Hemoglobin >16 mg/dl (Hematocrit >47%)
- Women: >16 mg/dl (Hematocrit >47%)
- Elevated Red Blood Bell count
- See diagnosis below
- Elevated Hemoglobin and Hematocrit
- Proliferation of all cell lines (50% of patients)
- Red Blood Cell related increases
- Diagnosis
- Exclude secondary causes of increased RBC Count
- Criteria
- Major Criteria (first two required)
- Increased Red Blood Cell mass
- Men: >36 ml/kg
- Women: >32 ml/kg
- Normal arterial Oxygen Saturation (>92%)
- Splenomegaly (or two minor criteria below)
- Increased Red Blood Cell mass
- Minor Criteria (two required if no Splenomegaly)
- Platelet Count >400 x10^3/uL
- Leukocyte count >12 x10^3/uL
- Alkaline Phosphatase >100 U/L
- Serum Vitamin B12 >900 pg/ml
- Major Criteria (first two required)
- Experimental diagnostic tools
- Endogenous erythroid colony growth in EPO-free medium
- Bone Marrow Biopsy: Polycythemia-specific finding
- Serum Erythropoietin low
- Test Sensitivity: 70%
- Test Specificity: 90%
- Complications
- Accelerated atherosclerotic and thrombotic disease
- Cerebrovascular Accident
- Myocardial Infarction
- Peripheral Vascular Disease
- Other rarely affected vessels
- Mesenteric thrombosis
- Hepatic vein thrombosis or Portal Vein Thrombosis
- Hemorrhage
- Progression to other hematologic disorder
- Myelofibrosis (20% of patients)
- Leukemia (5% of patients)
- Accelerated atherosclerotic and thrombotic disease
- Management: Myelosuppression
- Goal: Keep Hematocrit below threshold
- White men: Hematocrit <45%
- Black patients and all women: Hematocrit <42%
- Age Under 60 years
- Low or intermediate risk patients
- Repeated phlebotomy
- Interferon alfa-2b
- Low dose Aspirin (Platelet Count <150 x10^3/uL)
- High risk patients
- Low or Intermediate Risk Management options (above)
- Hydroxyurea
- Bisulfan
- Low or intermediate risk patients
- High risk patients over age 60 years
- Repeated phlebotomy
- Low dose Aspirin
- Hydroxyurea
- Busulfan
- Women of child bearing age
- Low or intermediate risk patients
- Repeated phlebotomy
- Low dose Aspirin (Platelet Count <150 x10^3/uL)
- High risk patients
- Low or Intermediate Risk Management options (above)
- Interferon alfa-2b
- Bisulfan
- Low or intermediate risk patients
- Goal: Keep Hematocrit below threshold
- Management: Pruritus
- Prognosis: Median survival in symptomatic patients
- Survival without treatment: 6-18 months
- Survival with treatment: >10 years
- References
Polycythemia Vera (C0032463) | |
|---|---|
| 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. |
| Definition (NCI) | A chronic myeloproliferative disorder 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) |
| Concepts | Neoplastic Process (T191) |
| ICD9 | 238.4 |
| MSH | D011087 |
| English | Erythraemia, Erythremia, Erythremias, OSLER VAQUEZ DIS, Osler Vaquez Disease, Osler's disease, Osler-Vaquez Disease, Osler-Vaquez syndrome, p.vera, Polycythaemia rubra vera, Polycythaemia vera, Polycythaemia vera -RETIRED-, polycythemia ruba vera, Polycythemia rubra vera, Polycythemia Vera, Polycythemia vera -RETIRED-, PPP - Primary proliferative polycythaemia, PPP - Primary proliferative polycythemia, Primary polycythaemia, Primary proliferative polycythaemia, Primary proliferative polycythemia, Proliferative polycythaemia, Proliferative polycythemia, PRV, PRV - Polycythaemia rubra vera, PRV - Polycythemia rubra vera, PV, Vaquez's disease, VAQUEZ-OSLER DISEASE |
| Spanish | eritremia, eritremia cronica, eritrocitemia, policitemia proliferativa, policitemia rubra vera, policitemia vera, policitemia verdadera, sindrome de Osler - Vasquez |
| Parent Concepts | Myeloproliferative disease (C0027022), Neoplasm of uncertain behavior of other and unspecified sites and tissues NOS (C0154124), Polycythemia (C0032461), Chronic myeloproliferative disorder (C1292778), Erythroid Neoplasm (C1333438), stage, chronic myeloproliferative disorders (C0279215), Polycythemia Vera (C0032463), Primary malignant neoplasm of bone marrow (C0686582), Chronic myeloproliferative disorder (clinical) (C1264194), Ambiguous concept (C1274012), Reason not stated concept (C1276325), Primary malignant neoplasm (C1306459) |
| Sources | AOD, COSTAR, CSP, DXP, ICD9CM, LCH, MSH, MTH, NCI, NDFRT, OMIM, PDQ, QMR, SCTSPA, SNOMEDCT Derived from the NIH UMLS (Unified Medical Language System) |