Polycythemia
Basics
Basics
Basics
Description
Description
- Increase in hemoglobin (Hgb) above the normal range:
- Men: Hgb >16.5 g/dL, hematocrit (Hct) >49%
- Women: Hgb >16 g/dL, Hct >48%
- Symptoms are related to blood viscosity, which increases exponentially at Hct >60%
Etiology
Etiology
- Relative (apparent) polycythemia:
- Resulting from decrease in plasma volume
- Acute: Dehydration
- Chronic: Gaisböck syndrome (stress polycythemia): Obese, hypertensive, middle-aged smokers
- Primary erythrocytosis:
- Polycythemia vera (PV): A stem cell disorder characterized by panhyperplasia of all bone marrow elements leading to increased production of RBCs, WBCs, and platelets. Erythrocytosis is the most prominent feature:
- Mutation in the tyrosine kinase (JAK2), which acts in signaling pathways of the EPO-receptor, rendering those cells hypersensitive to erythropoietin
- Median age 60, 5% <40, peak in 70s
- Higher in Ashkenazi Jews and lower in Asians and African Americans
- Median survival ∼14 yr
- May progress to myelofibrosis or acute leukemia
- Secondary polycythemia:
- Central hypoxia increasing erythropoietin:
- Chronic pulmonary disease
- Sleep apnea (5–10% have high Hgb)
- Obesity hypoventilation syndrome (Pickwickian syndrome)
- Congenital heart disease (right-to-left shunt)
- High altitude (chronic)
- Smoker's erythrocytosis
- Carbon monoxide poisoning (chronic)
- Chronic methemoglobinemia
- Renal-mediated causes of increased erythropoietin production:
- Renal cell carcinoma
- Renal artery atherosclerotic narrowing
- Focal glomerulonephritis
- Postrenal transplant with or without rejection
- Chronic hydronephrosis
- Polycystic kidney disease and renal cysts
- Inappropriate autonomous erythropoietin production:
- Hepatomas
- Cerebellar hemangioblastoma
- Wilms tumor
- Parathyroid carcinoma and adenoma
- Ovarian tumors
- Adrenal adenomas and carcinomas (pheochromocytoma, Cushing syndrome)
- Uterine leiomyomata
- Blood doping:
- Recombinant erythropoietin abuse
- Autologous transfusions
- Drug abuse:
- Chronic cocaine abuse
- Androgenic steroids
- Genetic disorders with polycythemia:
- High-affinity Hgb variants
- Bisphosphoglycerate deficiency
- von Hippel–Lindau syndrome
- Chuvash polycythemia
- Erythropoietin-receptor mutations
- Congenital methemoglobinemia
- Infections:
Diagnostic Criteria
- Major criteria:
- Hgb >16.5 g/dL in men, >16 g/dL in women
- BM trilineage myeloproliferation
- Presence of JAK2 mutation
- Minor criteria:
- Low serum erythropoietin level
- Adjuncts to diagnosis:
- Platelets >400,000/mm3
- ANC >10,000 (WBC >12,000/mm3)
- Splenomegaly on exam or CT imaging
- Leukocyte alkaline phosphatase elevation
- B12 >900 pg/mL; unbound vitamin B12-binding capacity >2,200 pg/mL
There's more to see -- the rest of this topic is available only to subscribers.
© 2000–2025 Unbound Medicine, Inc. All rights reserved