Ten years of clinical experience with eculizumab in PNH patients

Paroxysmal nocturnal hemoglobinuria (PNH) arises from a somatic mutation in the phosphatidylinositol glycan class A (PIG-A), X-linked gene, responsible for a deficiency in glycosyl phosphatidylinositol-anchored proteins (GPI-APs). The absence of one of the GPI-AP complement regulatory proteins (CD59) leads to hemolysis. Clinical manifestations include chronic hemolysis, thromboembolic disease, infectious complications, chronic kidney injury, pulmonary hypertension and smooth muscle dysfunction. Until 10 years ago, treatment was mainly supportive, with most patients suffering from significant morbidity and shortened survival compared with age-matched controls.

Source: Seminars in Hematology - April 9, 2018 Category: Hematology Authors: Flore Sicre de Fontbrune, R égis Peffault de Latour Source Type: research