Figure 5.

This algorithm shows an approach to the management of pyruvate kinase (PK) deficiency. Clinical signs and symptoms, in addition to hemoglobin levels, should be considered when deciding to initiate supportive care and/or disease-directed therapy. In patients with signs or symptoms of anemia that impact their quality of life, various treatment options should be considered. Symptomatic patients <18 years old should initiate red blood cell transfusions and then consider clinical trials (mitapivat or gene therapy), splenectomy, and/or a hematopoietic stem cell transplant (HSCT). In symptomatic adults ≥18 years, a treatment trial with a PK activator should be initiated, along with consideration of red cell transfusions. Additional options such as HSCT, clinical trials (gene therapy), and splenectomy can be considered if there is no response to a PK activator.