How we manage patients with pyruvate kinase deficiency

• Published in: British journal of haematology Vol. 184; no. 5; pp. 721 - 734
• Main Authors: Grace, Rachael F., Mark Layton, D., Barcellini, Wilma
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 01-03-2019
• Subjects: Anemia; Anemia, Hemolytic, Congenital Nonspherocytic - complications; Anemia, Hemolytic, Congenital Nonspherocytic - diagnosis; Anemia, Hemolytic, Congenital Nonspherocytic - therapy; Calculi; Chelation; Complications; congenital haemolytic anaemia; Diagnosis; Erythrocyte Transfusion; Gallstones - etiology; Gallstones - therapy; Gene therapy; Glycolysis; Hematology; Hematopoietic stem cells; Hemolytic anemia; Humans; Iron; iron overload; Iron Overload - etiology; Iron Overload - therapy; Management; Patients; Pyruvate kinase; Pyruvate Kinase - deficiency; Pyruvate Metabolism, Inborn Errors - complications; Pyruvate Metabolism, Inborn Errors - diagnosis; Pyruvate Metabolism, Inborn Errors - therapy; Pyruvic acid; Splenectomy; Transfusion; transfusions; iron overload; congenital haemolytic anaemia; Pyruvate kinase deficiency; transfusions; splenectomy
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1111/bjh.15758

Summary
Novel therapies in development have brought a new focus on pyruvate kinase deficiency (PKD), the most common congenital haemolytic anaemia due to a glycolytic enzyme deficiency. With an improved recognition of its clinical presentation and understanding of the diagnostic pathway, more patients are likely to be identified with this anaemia. Complications, including gallstones and non‐transfusion‐related iron overload, require monitoring for early diagnosis and management. Current management remains supportive with red cell transfusions, chelation and splenectomy. Decisions to transfuse and/or splenectomise must be individualised. Haematopoietic stem cell transplant has been pursued in a small number of patients with mixed outcomes. Novel treatment approaches, which range from a small molecule pyruvate kinase activator to gene therapy, may transform the way in which PKD is managed in the future. In this review, we discuss the pathophysiology of PKD and present our approaches to diagnosis, monitoring and management of patients with this anaemia.