Al-Samkari Hanny
Division of Hematology Oncology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Pediatr Blood Cancer. 2025 Feb;72(2):e31440. doi: 10.1002/pbc.31440. Epub 2024 Nov 13.
Pyruvate kinase (PK) activation is emerging as a promising treatment modality for numerous congenital hemolytic anemias of diverse pathophysiology, and one agent, mitapivat, is already licensed to treat patients with congenital PK deficiency. However, PK deficiency may also be acquired in the setting of clonal myeloid disorders and other pathologies, where it may result in severe hemolytic anemia and remains without known therapies. This case report describes the novel application of mitapivat therapy in a patient with acquired PK deficiency causing red cell transfusion dependence, liberating the patient from transfusions and resulting in marked improvement in symptoms and quality of life.
丙酮酸激酶(PK)激活正成为一种有前景的治疗方式,用于治疗多种具有不同病理生理机制的先天性溶血性贫血,一种名为米塔匹瓦特的药物已获许可用于治疗先天性PK缺乏症患者。然而,PK缺乏也可能在克隆性骨髓疾病和其他病理情况下获得,在这些情况下,它可能导致严重的溶血性贫血,并且仍然没有已知的治疗方法。本病例报告描述了米塔匹瓦特疗法在一名获得性PK缺乏导致红细胞输血依赖患者中的新应用,使患者摆脱输血,症状和生活质量得到显著改善。