Persistently high quality of life conferred by coexisting congenital deficiency of terminal complement C9 in a paroxysmal nocturnal hemoglobinuria patient

摘要

Paroxysmal nocturnal hemoglobinuria (PNH) clone bears a P1GA mutation and fails to express glycosylphosphatidylinositol-linked membrane proteins such as complement-regulatory CD55 and CD59, leading to complement-mediated intravascular hemolysis and thrombosis. The advent of eculizumab, an inhibitor of terminal complement C5, provides good quality of life (QOL) by preventing hemolysis and thrombosis,1'2 and may improve prognosis of PNH patients.3 However, the safety of its long-term use for more than 10 years1'2 and the pathogenesis of eculizumab-associated extravas-cular hemolysis have not been established.4 For the hemolysis, steroid, splenectomy,5 and C3-targeted therapy6 have been proposed, despite their individual risks.7 In 1980, we found a PNH patient with a coexisting congenital deficiency of C9, still the only case globally.