Serum erythropoietin values in erythrocytoses and in primary thrombocythaemia

Abstract

Summary. Serum erythropoietin (Epo) values were estimated in samples from 125 patients with erythrocytosis to examine the specificity and sensitivity of reduced and raised values in the diagnosis of polycythaemia vera (PV) and secondary erythrocytosis (SE) respectively. Additionally, Epo values were estimated in samples from 49 patients with primary thrombocythaemia (PT) to determine whether Epo values were altered. We found high specificity (92%) and moderate sensitivity (64%) of low serum Epo values (below the reference range) in the diagnosis of PV, and also poor sensitivity (47%) of raised Epo values in the diagnosis of SE. Raised Epo values were not observed in PV patients with Hb > 14AE0 g/dl and were only observed in one PV patient with a relatively low Hb recovering from a gastro-intestinal haemorrhage. Raised Epo values occurred in some patients with apparent erythrocytosis (AE) and idiopathic erythrocytosis (IE), mainly at normal (rather than raised) Hb values (< 16 g/dl). Low Epo values occurred in a few AE, IE and SE patients at higher Hb values (> 16 g/dl). Low Epo values were less specific for PV when the Hb was raised, while raised Epo values were less specific for SE when the Hb was not raised. Approximately one third of patients with PT had a low (below the reference range) Epo value, this being associated with a high normal Hb (> 14 g/dl, P < 0AE001) and showing a trend towards association with absence of treatment. The high normal Hb values were in turn associated with an increased incidence of thrombotic events (P < 0AE05). These findings could influence the future investigation and management of PT patients.

Classification and diagnosis of myeloproliferative neoplasms: The 2008 World Health Organization criteria and point-of-care diagnostic algorithms

“…[85][86][87][88][89][90] In this regard, we encourage the concomitant determination of serum erythropoietin (Epo) level in order to minimize the consequences of false-positive or false-negative molecular test results (vide supra), and also address the infrequent but possible occurrence of JAK2V617F-negative PV. 13,74,[91][92][93] In other words, it is highly unlikely that true PV will be both JAK2V617F-negative and display normal or elevated serum Epo level. 48 On the other hand, mutation screening for an exon 12 JAK2 mutation and bone marrow examination should be considered in a JAK2V617F-negative patient who displays subnormal serum Epo level (Figure 1).…”

JAK2V617F mutation in essential thrombocythaemia: clinical associations and long‐term prognostic relevance

“…ET shares both bone marrow histological (dysmorphic megakaryocyte proliferation with clustering) and clinical (increased risk of thrombohaemorrhagic events) phenotype with PV (Michiels & Thiele, 2002;Elliott & Tefferi, 2005). Similarly, a substantial number of patients with ET display PV-characteristic biological features including clonal myelopoiesis (Fialkow et al, 1981), in vitro growth factor independence/hypersensitivity of both erythroid and megakaryocyte progenitor cells (Juvonen et al, 1993;Axelrad et al, 2000), low serum erythropoietin level (Messinezy et al, 2002), altered megakaryocyte/platelet Mpl expression (Harrison et al, 1999a;Yoon et al, 2000), increased neutrophil PRV-1 expression (Passamonti et al, 2004b;Tefferi et al, 2004a), and decreased platelet serotonin content (Koch et al, 2004). Furthermore, another shared molecular phenotype between ET, PV, and several other MPD has recently been reported and involves an activating JAK2 tyrosine kinase mutation (JAK2 V617F ) (Baxter et al, 2005;James et al, 2005; Summary Clinical correlates and long-term prognostic relevance of the JAK2 V617F mutation was studied in 150 patients with essential thrombocythaemia (ET) from a single institution and followed for a median of 11AE4 years.…”

Ischemic Stroke as the Initial Presenting Manifestation of Polycythemia Rubra Vera- A Case Report

“…The erythropoietin level was within the normal range which is again possible. (13) Our patient responded well to Repeated Phlebotomy ,Low dose Aspirin and Hydroxyurea. Phlebotomy has been the mainstay of therapy for PV.…”

“…Serum erythropoetin levels are important levels are important in ruling out secondary causes. A low serum EPO level is highly suggestive but not diagnostic of PV (specificity of >90%) (13) . In contrast, the serum EPO level may lie within the reference range in patients with a definite diagnosis of PV.…”