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Algorithmic evaluation of hereditary erythrocytosis: Pathways and caveats
Author(s) -
Oliveira Jennifer L.
Publication year - 2019
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/ijlh.13019
Subject(s) - medicine , erythropoietin , mutation , presentation (obstetrics) , intensive care medicine , pediatrics , biology , genetics , surgery , gene
Multiple algorithms have been published for the evaluation of hereditary erythrocytosis ( HE ). Typical entry points begin after excluding the more common acquired conditions through investigations of clinical history and assessment of cardiac, pulmonary, or vascular system disorders. Prior exclusion of JAK 2 mutations, particularly the common JAK 2 V617F mutation, is indicated in adults but less so in pediatric populations. Key decision trees are based on serum erythropoietin levels and p50 results. Recent data reveal some overlap in clinical presentation and laboratory findings in erythrocytosis. Caveats to consider when using algorithmic approaches are discussed.