Quick diagnostic work up check list for polycythemia vera.
PV is a hematologic disease that is characterized by accumulation of phenotypically normal red blood cells, white blood cells, and platelets. The disease is diagnosed by a combined approach of laboratory investigations, bone marrow histology, and detection of characteristic mutations. A mutation of the JAK2 gene is found in 98% of PV patients and clearly distinguishes PV from secondary polycythemia.
Myeloproliferative blood conditions can present in cases of secondary erythromelalgia but they may manifest 2-3 years after EM has been diagnosed .
Diagnostic work up can include:
1.Increase in red cell volume/ hematocrit values .
2. Positive JAK2 V617F mutation and a low Epo level confirms the diagnosis of PV.( In secondary PV serum Epo level is generally within the reference range or is elevated).
3. Elevated white blood cell count
4. Leukocyte alkaline phosphatase (LAP) elevated in 70% patients.
5.Abnormal platelet function
6 Routine coagulation
7.Vitamin B-12 levels are elevated
8. Hyperuricemia occurs in 40% of patients
Palpable examination, ultrasonography or computed tomography scans of spleen
Bone marrow biopsy:
Not necessary to establish PV but to highlight hypercellularity and hyperplasia of the erythroid, granulocytic, and megakaryocytic cell lines or myelofibrosis.
1.Arterial oxygen saturation (SaO2) and carboxyhemoglobin (COHb) levels .
2. Iron stores are decreased or absent
3. Measure spontaneous growth of erythroid progenitors in cultures
4.Fibrosis is increased and detected early by silver stains for reticulin.