erythrocytosis
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Etiology
- increase in red cell mass secondary to an increase in erythropoietin.
- autonomous erythropoietin production
- 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)
- hemoglobinopathy
- Gaisbock syndrome
- congenital polycythemia
- von-Hippel-Lindau syndrome
- hypoxia, hypoxemia
- drug-induced
- renal transplantation
- primary erythrocytosis with low plasma erythropoietin
- 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
- also see polycythemia rubra vera
- complete blood count (CBC)
- leukocyte count is generally normal*
- platelet count is generally normal)
- pulse oximetry[2] vs arterial blood gas (ABG)
- serum erythropoietin levels may be increased or normal*
- peripheral blood smear[2]
- burst-forming unit-erythroid growth in vitro
- colony growth only with added erythropoietin*
- not necessary if clearly secondary erythrocytosis[2]
- JAK2 V617F mutation
- not necessary if clearly secondary erythrocytosis[2]
- a negative JAK2 V617F mutation should prompt evaluation for secondary cause of erythrocytosis[2]
- 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
- primary (autonomous) erythroid proliferation
- relative erythrocytosis (normal red cell mass)
- neoplasm, especially renal cell carcinoma
Management
- secondary erythrocytosis should be managed with treatment of underlying condition[2]
- post renal transplantation erythrocytosis responds to ACE inhibitors
- phlebotomy
- not necessary if clearly secondary erythrocytosis
- reserved for patients with symptomatic hyperviscosity or hematicrit > 60%[2]
- also see polycythemia rubra vera
More general terms
More specific terms
- familial erythrocytosis
- polycythemia rubra vera (PRV, PV, erythremia)
- stress erythrocytosis; spurious erythrocytosis (Gaisbock's syndrome)
Additional terms
References
- ↑ Saunders Manual of Medical Practice, Rakel (ed), WB Saunders, Philadelphia, 1996, pg 600
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 2.8 Medical Knowledge Self Assessment Program (MKSAP) 11, 15, 16, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2009, 2012, 2015, 2018, 2022.
Medical Knowledge Self Assessment Program (MKSAP) 20 American College of Physicians, Philadelphia 2025 - ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 180
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 206-207, 680
- ↑ Patnaik MM, Tefferi A. The complete evaluation of erythrocytosis: congenital and acquired. Leukemia. 2009 May;23(5):834-44 PMID: https://pubmed.ncbi.nlm.nih.gov/19295544
- ↑ Kremyanskaya M, Mascarenhas J, Hoffman R. Why does my patient have erythrocytosis? Hematol Oncol Clin North Am. 2012 Apr;26(2):267-83 PMID: https://pubmed.ncbi.nlm.nih.gov/22463827
- ↑ 7.0 7.1 7.2 Liu J et al. Diagnosis, management, and outcomes of drug-induced erythrocytosis: A systematic review. Blood Adv 2025 May 13; 9:2108 PMID: https://pubmed.ncbi.nlm.nih.gov/39913688 PMCID: PMC12051125 https://ashpublications.org/bloodadvances/article/9/9/2108/535485/Diagnosis-management-and-outcomes-of-drug-induced
- ↑ Gangat N, Szuber N, Pardanani A, et al. JAK2 unmutated erythrocytosis: current diagnostic approach and therapeutic views. Leukemia. 2021;35:2166-2181. PMID: https://pubmed.ncbi.nlm.nih.gov/34021251