title: [Spanish consensus statement for diagnosis and treatment of paroxysmal nocturnal haemoglobinuria].
abstract: Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired clonal disorder of the haematopoietic progenitor cells due to a somatic mutation in theX-linked phosphatidylinositol glycan class A gene. The disease is characterized by intravascular haemolytic anaemia, propensity to thromboembolic events and bone marrow failure. Other direct complications of haemolysis include dysphagia, erectile dysfunction, abdominal pain, asthenia and chronic renal failure (65% of patients). The disease appears more often in the third decade of life and there is no sex or age preference. Detection of markers associated with glucosyl phosphatidyl inositol deficit by flow cytometry is currently used in the diagnosis of PNH. For years, transfusions have been the mainstay of therapy for PNH. A breakthrough in treatment has been the approval of the humanized monoclonal antibody eculizumab, which works by blocking the C5 complement protein, preventing its activation and therefore haemolysis. Several studies have confirmed that treatment with eculizumab avoids or decreases the need for transfusions, decreases the probability of thrombosis, improves the associated symptomatology and the quality of life in patients with PNH, showing an increase in survival. Because of rapid advances in the knowledge of the disease and its treatment, it may become necessary to adapt and standardize clinical guidelines for the management of patients with PNH.
authors.affiliation: Servicio de Hematología, Hospital Clínico San Carlos de Madrid, Madrid, España. Electronic address: anamaria.villegas@salud.madrid.org.
authors.forename: Ana
authors.initials: A
authors.lastname: Villegas
authors.affiliation: Servicio de Hematología, Hospital Cruces, Bilbao, España.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Arrizabalaga
authors.affiliation: Servicio de Hematología, Hospital La Fe, Valencia, España.
authors.forename: Santiago
authors.initials: S
authors.lastname: Bonanad
authors.affiliation: Servicio de Hematología y Área de Gestión Clínica de Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, España.
authors.forename: Enrique
authors.initials: E
authors.lastname: Colado
authors.affiliation: Servicio de Hematología, Hospital Clínic, Barcelona, España.
authors.forename: Anna
authors.initials: A
authors.lastname: Gaya
authors.affiliation: Servicio de Hematología, Hospital Clínico San Carlos de Madrid, Madrid, España.
authors.forename: Ataúlfo
authors.initials: A
authors.lastname: González
authors.affiliation: Servicio de Hematología, Hospital La Fe, Valencia, España.
authors.forename: Isidro
authors.initials: I
authors.lastname: Jarque
authors.affiliation: Servicio de Hematología, Hospital Virgen del Rocío, Sevilla, España.
authors.forename: Ramiro
authors.initials: R
authors.lastname: Núñez
authors.affiliation: Servicio de Hematología, Hospital Puerta de Hierro, Madrid, España.
authors.forename: Emilio
authors.initials: E
authors.lastname: Ojeda
authors.affiliation: Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, España.
authors.forename: Alberto
authors.initials: A
authors.lastname: Orfao
authors.affiliation: Servicio de Hematología Clínica, Instituto Catalán de Oncología-Hospital Germans Trias i Pujol, Badalona, España.
authors.forename: José-María
authors.initials: JM
authors.lastname: Ribera
authors.affiliation: Servicio de Hematología, Hospital Morales Meseguer, Murcia, España.
authors.forename: Vicente
authors.initials: V
authors.lastname: Vicente
authors.affiliation: Servicio de Hematología, Hospital Clínic, Barcelona, España.
authors.forename: Álvaro
authors.initials: Á
authors.lastname: Urbano-Ispizua
mesh_terms: D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use; D000925:Anticoagulants / Q000627:therapeutic use; D001427:Bacterial Toxins / Q000032:analysis; D015415:Biomarkers; D001803:Blood Transfusion; D003131:Combined Modality Therapy; D003182:Complement C5 / Q000037:antagonists & inhibitors; D003952:Diagnostic Imaging / Q000379:methods; D005260:Female; D005434:Flow Cytometry; D006402:Hematologic Diseases / Q000209:etiology; D018380:Hematopoietic Stem Cell Transplantation; D006457:Hemoglobinuria, Paroxysmal / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology; D007676:Kidney Failure, Chronic / Q000209:etiology; D008297:Male; D008565:Membrane Proteins / Q000032:analysis* / Q000172:deficiency / Q000235:genetics; D052899:Pore Forming Cytotoxic Proteins / Q000032:analysis; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000628:therapy; D019851:Thrombophilia / Q000188:drug therapy / Q000209:etiology
chemical_list: D061067:Antibodies, Monoclonal, Humanized; D000925:Anticoagulants; D001427:Bacterial Toxins; D015415:Biomarkers; D003182:Complement C5; D008565:Membrane Proteins; D052899:Pore Forming Cytotoxic Proteins; C080086:phosphatidylinositol glycan-class A protein; C032676:aerolysin; C481642:eculizumab
keywords: Células progenitoras hematopoyéticas; Hematopoietic progenitor cells; Hemoglobinuria paroxística nocturna; Mutación; Mutation; Paroxysmal nocturnal haemoglobinuria