RESUMO
The development of inhibitors toward factor VIII (FVIII) is a common and serious complication of hemophilia A (HA) therapy. Patients with hemophilia who develop inhibitors often undergo time- and resource-intensive immune tolerance induction (ITI) protocols. We report a 15-month-old male with severe HA and a high-titer inhibitor that occurred while receiving prophylactic treatment with recombinant FVIII (rFVIII), in whom significant inhibitor titer reduction was achieved with thrice weekly infusions of a new, prolonged half-life rFVIII-Fc fusion protein product (trade name Eloctate). Further studies are warranted to explore the potential of Eloctate in ITI protocols.
Assuntos
Inibidores dos Fatores de Coagulação Sanguínea/imunologia , Dessensibilização Imunológica , Fator VIII , Hemofilia A/tratamento farmacológico , Tolerância Imunológica/efeitos dos fármacos , Receptores Fc , Fator VIII/administração & dosagem , Fator VIII/antagonistas & inibidores , Fator VIII/genética , Fator VIII/imunologia , Hemofilia A/imunologia , Humanos , Lactente , Masculino , Receptores Fc/administração & dosagem , Receptores Fc/genética , Receptores Fc/imunologia , Proteínas Recombinantes de Fusão/administração & dosagem , Proteínas Recombinantes de Fusão/genética , Proteínas Recombinantes de Fusão/imunologiaRESUMO
We report a patient with nonimmune fetal hydrops and multiple pathologic fractures. RNA analysis revealed a novel PIEZO1 variant. This report is the first to elucidate PIEZO1's role as a critical regulator of bone mass and strength.