Consensus statement for diagnosis and treatment of paroxysmal nocturnal haemoglobinuria

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.

Resonancia magnética renal en un paciente con hemoglobinuria paroxística nocturna / Renal magnetic resonance in a patient with paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal disease causing hematopoietic cell alteration, caused by a mutation in the PIG-A gene; which does not allow certain important proteins to bind to the cells. A 58-year-old patient presented with headache, a history of malaria, and occasionally dark urine. Magnetic resonance imaging proved to be an effective diagnostic method for detecting renal cortical hemosiderosis, thanks to its high spatial resolution capacity.

La hemoglobinuria paroxística nocturna (HPN) es una enfermedad clonal adquirida ocasionando la alteración de células hematopoyética, causada por una mutación en el gen GPI-A; lo cual no permite que ciertas proteínas importantes se fijen a las células. Se presenta un paciente de 58 años que acude con cefalea, antecedente de malaria y en ocasiones orinas oscuras. La resonancia magnética demostró ser un método diagnóstico eficaz para detectar la hemosiderosis renal cortical, gracias a su elevada capacidad de resolución espacial.