Polycythemia: Test and Diagnosis

1st order laboratory parameters – obligatory laboratory tests.

  • Small blood count
  • Differential blood count

Laboratory parameters 2nd order – depending on the results of the history, physical examination and obligatory laboratory parameters – for differential diagnostic clarification.

  • Inflammatory parameters – CRP (C-reactive protein).
  • Liver parameters – alanine aminotransferase (ALT, GPT), aspartate aminotransferase (AST, GOT), glutamate dehydrogenase (GLDH) and gamma-glutamyl transferase (gamma-GT, GGT), alkaline phosphatase, bilirubin.
  • Renal parameters – urea, creatinine, cystatin C or creatinine clearance, if necessary.
  • Alkaline leukocyte phosphatase (ALP; leukocyte AP) [ALP index: ↑ in polycythaemia vera (PV)]
  • Uric acid [including ↑ in chronic myeloproliferative disorders]
  • LDL [et al ↑ in chronic myeloproliferative disorders]
  • Coagulation parameters – PTT, Quick
  • Erythropoietin (EPO)
    • EPO is elevated in:
      • Hypoxia (lack of oxygen) – due to many different causes.
        • Chronic anemia (anemia) of non-renal origin (non-renal).
        • Acute blood loss and chronic bleeding, unspecified.
        • Pulmonary disease, unspecified
        • Heart disease, unspecified
      • Paraneoplastic in renal tumors (renal cell carcinoma), adrenal adenomas, ovarian carcinoma (ovarian cancer), hepatocellular carcinomas.
      • Polyglobulia
      • In the 2nd and 3rd trimester (third trimester) of pregnancy, erythropoietin levels are physiologically increased
    • EPO is decreased in:
      • AIDS
      • Chronic renal insufficiency (kidney weakness).
      • Dialysis (blood washing)
      • Hunger states
      • Hypothyroidism (underactive thyroid gland)
      • Polycythaemia vera (PV) – disease in which there is a proliferation of all rows of cells in the blood.
      • Renal (kidney-related) anemia (anemia).
      • Tumor anemia (tumor-related anemia).
  • Molecular genetic studies: JAK2-V617F or JAK2 exon12 mutations (material: heparin bone marrow; EDTA bone marrow blood):
    • JAK2-V617F mutation is found in >95% of patients with PV; in the remaining 5%, one of 8 known JAK2 exon 12 mutations can usually be detected; only in a few cases can no clonal marker be detected
    • Overexpression of the PRV1 gene detectable in nearly 100% of PV patients.