Strategies to Manage PK Deficiency | For HCPs

Current Management Strategies

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Treatment Strategies

MEDICATION

An FDA-approved medication is available for adults with pyruvate kinase deficiency (PK deficiency) and is used to treat low blood cell count caused by hemolytic anemia.

SPLENECTOMY

A splenectomy can increase hemoglobin levels and prevent additional disease complications. If a patient’s spleen is enlarged or removing working RBCs, a splenectomy can be considered. However, splenectomized patients may be at a higher risk for certain bacterial infections.

RBC transfusion

To increase hemoglobin levels, patients may receive red blood cell transfusions. The degree of anemia and its symptoms impact how often patients receive transfusions, if at all.

Variability of symptoms and complications should inform management decisions1,3

  • 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 Lifespan4

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.

Understand the variations of PK deficiency

Explore the case studies

Understand the variations of PK deficiency

Explore the case studies

References: 1. Grace RF, Layton DM, Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol. 2019;184(5):721-734. 2. PYRUKYND. Prescribing information. Agios Pharmaceuticals, Inc.; 2022. 3. Grace RF, Bianchi P, van Beers EJ, et al. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood. 2018;131(20):2183​-2192. 4. 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.

Get connected with an Agios Hemolytic Anemia Specialist. .