Erythrocyte pyruvate kinase deficiency: 2015 status report

Abstract

Over the last several decades, our understanding of the genetic variation, pathophysiology, and complications of the hemolytic anemia associated with red cell pyruvate kinase deficiency (PKD) has expanded. Nonetheless, there remain significant gaps in our knowledge with regard to clinical care and monitoring. Treatment remains supportive with phototherapy and/or exchange transfusion in the newborn period, regular or intermittent red cell transfusions in children and adults, and splenectomy to decrease transfusion requirements and/or anemia related symptoms. In this article, we review the clinical diversity of PKD, the current standard of treatment and for supportive care, the complications observed, and future treatment directions.

Figure 1

The Emden‐Meyerhof pathway. G6P, glucose‐6‐phosphate; F6P, fructose‐6‐phophate; F1,6P, fructose 1,6‐phosphate; DHAP, dihydroxyacetone phosphate; G3P, glucose‐3‐phosphate; 1,3‐DPG, 1,3‐diphosphoglycerate; 2,3‐DPG, 2,3‐diphosphoglycerate; 3‐PG, 3‐phosphoglycerate; 2‐PG, 2‐phosphoglycerate; PEP, phosphoenolpyruvate. [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]

Figure 2

Blood smear findings in a transfusion dependent patient with pyruvate kinase deficiency before splenectomy (Figure 2A) and after splenectomy when no longer requiring red cell transfusions (Figure 2B). The red cell findings before splenectomy are mild, whereas, after splenectomy, polychromasia is more prominent and the characteristic echinocytes are more pronounced. [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]