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PLASTIC RECONSTRUCTIVE AND REGENERATIVE SURGERY

Abstract

Pyruvate kinase deficiency causes chronic hereditary non-spherocytic hemolytic anemia and is associated with long-term complications including iron overload, liver cirrhosis, endocrinopathies, osteoporosis, and pulmonary hypertension. Mitapivat is a first-in-class oral allosteric activator of erythrocyte-specific isoforms of the PK enzyme shown to increase hemoglobin, reduced hemolysis and improve patient reported outcome. The drug was approved after ACTIVATE and ACTIVATE-T trials for patients with PK deficiency; these trials were restricted to patients carrying at least one missense mutation of the gene, who tent to respond better than those with two non-missense mutations. Herein we report the case of a transfusion-dependent patient affected by PK deficiency due to homozygous mutation of c.1528C>T, p.Arg510Ter treated with Mitapivat. Despite the nonsense mutation, this patient showed a significant decrease in hemolysis, reduction in transfusion needs and improvement of clinical conditions.

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Authors

Sara Ceglie - Dipartimento Scienze di Laboratorio ed Ematologiche, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Rome, Italy; Sezione di Ematologia, Dipartimento di Scienze Radiologiche ed Ematologiche, Università Cattolica del Sacro Cuore, Rome, Italy

Caterina Giovanna Valentini - Dipartimento Scienze di Laboratorio ed Ematologiche, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Rome, Italy https://orcid.org/0000-0002-7022-5366

Claudio Pellegrino - Dipartimento Scienze di Laboratorio ed Ematologiche, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Rome, Italy; Sezione di Ematologia, Dipartimento di Scienze Radiologiche ed Ematologiche, Università Cattolica del Sacro Cuore, Rome, Italy https://orcid.org/0000-0002-1614-5576

Giuseppina Massini - Dipartimento Scienze di Laboratorio ed Ematologiche, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Rome, Italy

Luciana Teofili - Dipartimento Scienze di Laboratorio ed Ematologiche, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Rome, Italy; Sezione di Ematologia, Dipartimento di Scienze Radiologiche ed Ematologiche, Università Cattolica del Sacro Cuore, Rome, Italy https://orcid.org/0000-0002-7214-1561

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