Elevated serum erythropoietin in a patient with polycythaemia vera presenting with Budd-Chiari syndrome

Polycythaemia vera (PV) is a clonal disorder of bone marrow stem cells characterised by erythrocytosis. Diagnosis of PV requires exclusion of secondary causes of polycythaemia. It has been held that an elevated erythropoietin (Epo) level strongly indicates secondary erythrocytosis and excludes PV di...

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Bibliographic Details
Published in:BMJ case reports 2014-12, Vol.2014, p.bcr2014205663
Main Authors: Jones, Catherine, Levy, Yair, Tong, Alex W
Format: Article
Language:English
Subjects:
Age
Ascites - etiology
Biomarkers - blood
Bone marrow
Budd-Chiari Syndrome - blood
Budd-Chiari Syndrome - complications
Budd-Chiari Syndrome - diagnosis
Diagnosis, Differential
Erythropoietin - blood
Female
Humans
Hypoxia
Laboratories
Middle Aged
Mutation
Patients
Phlebotomy
Polycythemia Vera - blood
Polycythemia Vera - complications
Polycythemia Vera - diagnosis
Rodents
Ultrasonic imaging
Unknown
Unusual Association of Diseases/Symptoms
USA/Canada
Veins & arteries
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Summary:Polycythaemia vera (PV) is a clonal disorder of bone marrow stem cells characterised by erythrocytosis. Diagnosis of PV requires exclusion of secondary causes of polycythaemia. It has been held that an elevated erythropoietin (Epo) level strongly indicates secondary erythrocytosis and excludes PV diagnosis, to the extent that the reduced serum Epo level is currently listed as a minor criterion in the WHO classification scheme for PV. However, patients with PV who co-present with Budd-Chiari syndrome have been documented with elevated serum Epo levels. For these patients, identification of the Janus kinase 2 (JAK2) V617F point mutation along with the transient nature of the Epo elevation provides certainty of PV diagnosis, as illustrated by the proband. In this case report, the patient's positive response to cytoreductive therapy (hydroxyurea 500 mg daily) and phlebotomy (750 mL over three phlebotomies) further supports validity of PV diagnosis with elevated Epo. The patient remains on rivaroxaban (Xarelto) for treatment of her portal vein thrombosis.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2014-205663