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erythrocytosis

Etiology: 1) increase in red cell mass secondary to an increase in erythropoietin. a) autonomous erythropoietin production - tumors - renal cell carcinoma - liver cancer, hepatocellular carcinoma [2] - pheochromocytoma - hemangioma - ovarian cancer - cerebellar hemangioblastoma - hypernephroma - adrenal adenoma - meningioma - uterine fibromyoma - polycystic kidney disease - uterine fibroids - transplant rejection - Bartter's syndrome - hydronephrosis - renal artery stenosis - focal glomerulonephritis b) secondary increase in erythropoietin - hypoxia, hypoxemia - high altitude - pulmonary arteriovenous shunts - cyanotic heart disease (right to left cardiac shunts) - chronic obstructive pulmonary disease (COPD) - sleep apnea - respiratory center dysfunction - supine hypoventilation - renal artery stenosis - impaired oxygen delivery - hemoglobinopathy - high O2 affinity variants - congenital methemoglobinemia - carboxyhemoglobin/smoking (mild erythrocytosis) - Gaisbock syndrome - congenital polycythemia - von-Hippel-Lindau syndrome c) steroids - testosterone - glucocorticoids d) renal transplantation 2) primary erythrocytosis with low plasma erythropoietin a) polycythemia vera b) familial erythrocytosis 3) thalassemia: erythrocyte count may be normal or high Pathology: - secondary erythroid proliferation due to an increase in production of erythropoietin Clinical manifestations: - splenomegaly is NOT a feature Laboratory: 1) also see polycythemia rubra vera 2) complete blood count (CBC) a) leukocyte count is generally normal* b) platelet count is generally normal) 2) pulse oximetry [2] vs arterial blood gas (ABG) -> hypoxia & O2 desaturation in many patients 3) serum erythropoietin levels may be increased or normal* 4) peripheral blood smear [2] 4) burst-forming unit-erythroid growth in vitro - colony growth only with added erythropoietin* - not necessary if clearly secondary erythrocytosis [2] 5) JAK2 V617F mutation - not necessary if clearly secondary erythrocytosis [2] - a negative JAK2 V617F mutation should prompt evaluation for secondary cause of erythrocytosis[2] 6) bone marrow biopsy - not necessary if clearly secondary erythrocytosis [2] * secondary erythrocytosis Radiology: - CT of abdomen & pelvis if suspected neoplasm, especially renal cell carcinoma Differential diagnosis: 1) primary (autonomous) erythroid proliferation - polycythemia rubra vera 2) relative erythrocytosis (normal red cell mass) a) dehydration b) stress erythrocytosis (Gaisbock's syndrome) 3) neoplasm, especially renal cell carcinoma Management: 1) secondary erythrocytosis should be managed with treatment of underlying condition [2] - post renal transplantation erythrocytosis responds to ACE inhibitors 2) phlebotomy - not necessary if clearly secondary erythrocytosis 3) also see polycythemia rubra vera

Related

polycythemia

Specific

familial erythrocytosis polycythemia rubra vera (PRV, PV, erythremia) stress erythrocytosis; spurious erythrocytosis (Gaisbock's syndrome)

General

erythrocyte disorder

References

  1. Saunders Manual of Medical Practice, Rakel (ed), WB Saunders, Philadelphia, 1996, pg 600
  2. Medical Knowledge Self Assessment Program (MKSAP) 11, 15, 16, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2009, 2012, 2015, 2018, 2022.
  3. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 180
  4. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 206-207, 680
  5. Patnaik MM, Tefferi A. The complete evaluation of erythrocytosis: congenital and acquired. Leukemia. 2009 May;23(5):834-44 PMID: 19295544
  6. Kremyanskaya M, Mascarenhas J, Hoffman R. Why does my patient have erythrocytosis? Hematol Oncol Clin North Am. 2012 Apr;26(2):267-83 PMID: 22463827