The role of a low erythropoietin level for the polycythemia vera diagnosis

Revisiting Diagnostic performances of serum erythropoïetin level and JAK2 mutation for polycythemias: analysis of a cohort of 1090 patients with red cell mass measurement

“…Our results show a high PPV of a low EPO level for the diagnosis of PV, which was 91·2% for EPO ≤3·3 mUI/ml and 100% for EPO ≤ 1·99 mUI/ml, in accordance with Mossuz (PPV = 97·8% for EPO ≤3·3 mUI/ml; PPV = 100% for EPO ≤1·4 mUI/ml) 3 and Lupak (PPV = 92·7% for EPO <=3·7 mUI/ml) 8 …”

“…In the second group of discrepant cases (normal or high EPO and presence of a mutation in JAK2, n = 41), a cause of SE was found in 20 cases, such as pulmonary or cardiac insufficiency, sleep apnea, arrhythmia, smoking or obesity. 8 Coexistence of PV and SE has already been described 13 and known comorbidity conditions are responsible for the secondary EPO increase in the setting of erythrocytosis. 8 We observed an inverse relationship between EPO level and RCM in PV patients (RCM ≥125%, high Ht/Hb and presence of a JAK2 mutation) (Fig 2A).…”

“…Sensitivity of a low EPO level for PV diagnosis varies from 63% to 93% in six different studies. These reports were very heterogeneous regarding the recruitment of patients, the low EPO threshold, the EPO assays (which have different normal values and analytical performances in this low range of EPO concentrations), the knowledge of JAK2 mutational status and finally, a bone marrow biopsy was rarely performed [3][4][5][6][7][8] Our results show a high PPV of a low EPO level for the diagnosis of PV, which was 91Á2% for EPO ≤3Á3 mUI/ml and 100% for EPO ≤ 1Á99 mUI/ml, in accordance with Mossuz (PPV = 97Á8% for EPO ≤3Á3 mUI/ml; PPV = 100% for EPO ≤1Á4 mUI/ml) 3 and Lupak (PPV = 92Á7% for EPO <=3Á7 mUI/ml). 8 However, a low EPO level and presence of JAK2 mutation are often redundant in true polycythemic patients with high Ht/Hb (125/164 = 76%) (Fig 1D ), and to a lesser extent in those with normal Ht/Hb (66/105 = 63%) (Fig 1E).…”

“…Studies reporting the diagnostic performances of EPO for polycythemias each included a limited number of patients and had variations in the choice of diagnostic criteria for PV 3–8 . In the present study, PV was diagnosed in the presence of an increased RCM and a mutation in the JAK2 gene.…”

“…2 Studies reporting the diagnostic performances of EPO for polycythemias each included a limited number of patients and had variations in the choice of diagnostic criteria for PV. [3][4][5][6][7][8] In the present study, PV was diagnosed in the presence of an increased RCM and a mutation in the JAK2 gene. In the absence of a JAK2 mutation, secondary erythrocytosis (SE) was diagnosed, if a cause of SE was identified, otherwise, idiopathic erythrocytosis (IE) was diagnosed.…”