Paroxysmal nocturnal hemoglobinuria is a chronic, multi-systemic, progressive and lifethreatening
disease characterized by
intravascular hemolysis, thrombotic events, serious
infections and
bone marrow failure.
Paroxysmal nocturnal hemoglobinuria results from the expansion of a
clone of hematopoietic
cells that due to an inactivating
mutation of the
X-linked gene PIG-A are deficient in
glycosylphosphatidylinositol-linked
proteins.
Early diagnosis, using
flow cytometry performed on peripheral
blood, the
gold standard test to confirm the
diagnosis of
paroxysmal nocturnal hemoglobinuria, is essential for improved
patient management and
prognosis. The traditional
therapy for
paroxysmal nocturnal hemoglobinuria includes
blood transfusion, anti-
thrombosis prophylaxis or allogeneic
bone marrow transplantation. The
treatment that has recently become available is the
complement blockade by the anti-C5
monoclonal antibody eculizumab. In this
consensus, we are aiming to
review the
diagnosis and
treatment of the
paroxysmal nocturnal hemoglobinuria patients, as well as the early recognition of its systemic
complications. These
procedures express the
opinions of experts and have been based on the best available evidence and international guidelines, with the purpose of increasing benefits and reducing harm to
patients.