Consider a PK Deficiency Diagnosis | For HCPs

The Diagnostic Pathway


See expert guidelines on diagnosis and management strategies

Consider PK deficiency in all patients displaying lifelong chronic hemolysis where other causes have been excluded1-3

A definitive diagnosis of PK deficiency is essential for monitoring and management decisions

Markers of chronic hemolysis Markers of chronic hemolysis

Differential diagnosis4,5

Hematologic features of PK deficiency are not specific and can overlap with other diseases, including:

  • Autoimmune hemolytic anemias
  • RBC membranopathies
  • Other RBC enzymopathies
  • Hemoglobinopathies

Case Profile*: Delayed Diagnosis2

Inflammatory anemia, hyperbilirubinemia attributed to Gilbert syndrome (not confirmed by genetic testing)
Age 27
Baseline hemoglobin (Hb) improvement of 11.5 to 12.5 g/dL
Age 29
Markers of hemolysis
  • Hb: 10.9 g/dL (low)
  • Absolute reticulocyte count:
    1030 × 109/L (high)
  • Haptoglobin: undetectable
  • Indirect bilirubin: 3.7 mg/dL (high)
Additional evaluations
  • Direct antiglobulin test: negative
  • Hb electrophoresis: unremarkable
  • Erythrocyte membrane defects: negative
PK enzyme and genetic testing
PK activity: 1.2 U/g Hb (reference range, 6.7-14.3 U/g Hb)
Compound heterozygosity for 2 PKLR missense mutations

*Due to the variability of the disease, case profiles are not reflective of every patient.

Identify patients with PK deficiency, to provide the monitoring and management they need1,2

Confirm or rule out PK deficiency as the cause of your patient’s chronic hemolysis

Confirm or rule out PK deficiency as the cause of your patient’s chronic hemolysis

References: 1. Bianchi P, Fermo E, Glader B, et al. Addressing the diagnostic gaps in pyruvate kinase deficiency: consensus recommendations on the diagnosis of pyruvate kinase deficiency. Am J Hematol. 2019;94(1):149-161 [supplementary online material]. 2. Al-Samkari H, van Beers EJ, Kuo KHM, et al. The variable manifestations of disease in pyruvate kinase deficiency and their management. Haematologica. 2020;105(9):2229-2239. 3. Grace RF, Layton DM, Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol. 2019;184(5):721-734. 4. Grace RF, Zanella A, Neufeld EJ, et al. Erythrocyte pyruvate kinase deficiency: 2015 status report. Am J Hematol. 2015;90(9):825-830. 5. Nassin ML, Lapping-Carr G, de Jong JLO. Anemia in the neonate: the differential diagnosis and treatment. Pediatr Ann. 2015;44(7):e159-e163.

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