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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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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

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

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

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