Strategies to Manage PK Deficiency | For HCPs

Current Management Strategies

The current approach includes supportive care and management of complications, strategies that may be insufficient for many patients1

Current supportive care strategies may pose risks or create quality-of-life issues

SPLENECTOMY

BENEFITS

  • Increases hemoglobin

RISKS AND LIMITATIONS

  • Confers lifelong risk of sepsis and thromboembolic disease
  • Does not address root cause of hemolysis; risk of aplastic crises, gallstones, and iron overload remain
  • May not confer improvements in anemia; patients may still require regular transfusions

RBC transfusion

BENEFITS

  • Increases hemoglobin

RISKS AND LIMITATIONS

  • Risk of iron overload remains
  • Poses quality-of-life issues related to transfusion burden
  • Does not address root cause of hemolysis

Variability of symptoms and complications should inform management decisions1,2

  • Supportive care should be based on individual patient needs
  • Disease burden and progression can be unpredictable throughout patients’ lives

Strategies for managing the complications of PK deficiency1

Chelation therapy

  • Necessary for regularly transfused patients
  • Regular evaluations of ferritin levels should be performed in patients who are not regularly transfused to determine if chelation is appropriate

Cholecystectomy

  • Gallstones are a frequent complication in
    PK deficiency
  • Regular screening by ultrasound for gallstones prior to splenectomy is recommended

Allogeneic hematopoietic stem cell transplant1

  • Not recommended, nor is it widely used due to high mortality risk

Case Profile*: Burden Over Lifespan3

Childhood
Diagnosed with PK deficiency in childhood; transfusion-dependent until splenectomized at age 8
Age 8 to 49
5 RBC transfusions total
Nonsmoker; experiences decreased exercise tolerance, despite no changes to baseline hemoglobin, during her late 40s
Age 52
Receiving regular RBC transfusion (2 units every 8 weeks) to raise hemoglobin above 10.0 g/dL
Age 54
Requires 2 RBC units every 6 weeks
* Due to the variability of the disease, case profiles are not reflective of every patient.
There are no current disease-specific treatments for PK deficiency1

Understand the variations of PK deficiency

Understand the variations of PK deficiency

Stay Informed:

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References: 1. Grace RF, Mark Layton D, Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol. 2019;184(5):721-734. 2. Grace RF, Bianchi P, van Beers EJ, et al. Clinical spectrum of pyruvate kinase deficiency: data from Pyruvate Kinase Deficiency Natural History Study. Blood. 2018;131(20):2183-2192. 3. Al-Samkari H, van Beers EJ, Kuo KHM, et al. The variable manifestations of disease in pyruvate kinase deficiency and their management [published online ahead of print March 12, 2020]. Haematologica. 2019;2019:240846. doi:10.3324/haematol.2019.240846