What are the diagnostic criteria for Polycythemia Vera (PV) in a female?

From the Guidelines

Polycythemia vera (PV) in women is diagnosed using the World Health Organization criteria, which requires both major criteria and at least one minor criterion, or the first major criterion plus at least two minor criteria, with the major criteria including hemoglobin levels above 16 g/dl or hematocrit above 48% in women, presence of JAK2 mutation, and bone marrow biopsy showing hypercellularity with trilineage growth, as stated in the most recent guidelines 1. The diagnosis of PV in women involves several key criteria, including:

• Hemoglobin levels above 16 g/dl or hematocrit above 48% in women, which is a key indicator of increased red cell mass 1
• Presence of JAK2 mutation, which is present in over 95% of PV cases, making it a crucial diagnostic marker 1
• Bone marrow biopsy showing hypercellularity with trilineage growth, which helps to distinguish PV from other myeloproliferative neoplasms 1 Minor criteria include:
• Subnormal serum erythropoietin level, which helps to differentiate PV from secondary causes of polycythemia 1
• Endogenous erythroid colony formation in vitro, which is a characteristic feature of PV 1
• Bone marrow biopsy showing increased megakaryocytes, which is a common finding in PV 1 It is essential to distinguish PV from secondary polycythemia caused by conditions like chronic hypoxia, certain tumors, or kidney disease, and to use the most recent guidelines to ensure accurate diagnosis and management 1.

From the Research

Diagnostic Criteria for Polycythemia Rubra Vera in Women

The diagnosis of polycythemia rubra vera (PRV) in women is based on several key criteria, including:

• Hemoglobin levels of >16 g/dL or hematocrit levels of >48% 2, 3
• Presence of a JAK2 mutation, which is found in over 95% of PRV cases 2, 4, 3
• Bone marrow morphologic features, such as erythroid hyperplasia and atypical megakaryocytes 5, 6
• Absence of secondary causes of erythrocytosis, such as tobacco smoking or sleep apnea 4, 3

Laboratory Findings

Laboratory findings that support the diagnosis of PRV in women include:

• Elevated red blood cell mass 6
• Leukocytosis and thrombocytosis, which are common in PRV patients 2, 3
• Low serum erythropoietin levels, which help differentiate PRV from secondary causes of erythrocytosis 4

Bone Marrow Examination

Bone marrow examination is an essential component of the diagnostic workup for PRV, as it helps to:

• Confirm the presence of erythroid hyperplasia and atypical megakaryocytes 5, 6
• Rule out other myeloproliferative neoplasms or bone marrow disorders 6
• Provide baseline histomorphology for future comparison 6