Publication Date
6-10-2025
DOI
10.31986/issn.2578.3343_vol6iss1.7
First Page
39
Last Page
43
Abstract
Pyruvate kinase deficiency (PKD) is an autosomal recessive disorder and the most common cause of chronic hemolytic anemia secondary to red blood cell (RBC) enzyme defects. Treatment is mainly supportive including splenectomy and transfusions. Mitapivat, an oral allosteric activator of defective pyruvate kinase, was approved by the FDA in February 2022 for treatment of adults with PKD. However, because Mitapivat undergoes liver metabolism, patients must have stable liver profiles prior to initiation of therapy. We present a case of PKD complicated by hemophagocytic lymphohistiocytosis (HLH). We initiated steroid therapy for his HLH with the intent to subsequently start Mitapivat. We delayed initiation of Mitapivat therapy due to persistent hepatic dysfunction. After starting Mitapivat his liver function remained stable, and his blood transfusion dependence slightly decreased. This suggested that Mitapivat does not necessarily worsen liver dysfunction or iron overload, and that this should therefore not be a reason to delay treatment.
Recommended Citation
Pope, Christopher; Ashraf, Farah; White, Jacqueline; Sivakumar, Akhilesh; Behling, Eric; and Budak-Alpdogan, Tulin
(2025)
"A Challenging Case of Pyruvate Kinase Deficiency complicated by Hemophagocytic Lymphohistiocytosis,"
Cooper Rowan Medical Journal: Vol. 6:
Iss.
1, Article 6.
DOI: 10.31986/issn.2578.3343_vol6iss1.7
Available at:
https://rdw.rowan.edu/crjcsm/vol6/iss1/6
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.
