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
- steroids
- 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
- 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 Medical Knowledge Self Assessment Program (MKSAP) 11, 15, 16, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2009, 2012, 2015, 2018, 2022.
- ↑ 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://www.ncbi.nlm.nih.gov/pubmed/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://www.ncbi.nlm.nih.gov/pubmed/22463827