Recent developments in the understanding and management of paroxysmal nocturnal haemoglobinuria.
Paroxysmal nocturnal haemoglobinuria (PNH) has been recognised as a discrete disease entity since 1882. Approximately a half of patients will eventually die as a result of having PNH. Many of the symptoms of PNH, including recurrent abdominal pain, dysphagia, severe lethargy and erectile dysfunction, result from intravascular haemolysis with absorption of nitric oxide by free haemoglobin from the plasma. These symptoms, as well as the occurrence of thrombosis and aplasia, significantly affect patients' quality of life; thrombosis is the leading cause of premature mortality. The syndrome of haemolytic-anaemia-associated pulmonary hypertension has been further identified in PNH patients. There is currently an air of excitement surrounding therapies for PNH as recent therapeutic developments, particularly the use of the complement inhibitor eculizumab, promise to radically alter the symptomatology and natural history of haemolytic PNH.
Hill
Anita
A
Department of Haematology, Leeds Teaching Hospitals NHS Trust, Great George Street, Leeds, UK. anitahill@nhs.net
Richards
Stephen J
SJ
Hillmen
Peter
P
D000911:Antibodies, Monoclonal / Q000627:therapeutic use; D061067:Antibodies, Monoclonal, Humanized; D018957:CD59 Antigens / Q000008:administration & dosage; D051056:Complement Inactivating Agents / Q000008:administration & dosage; D015938:Complement Membrane Attack Complex / Q000037:antagonists & inhibitors; D004912:Erythrocytes / Q000502:physiology; D015316:Genetic Therapy / Q000379:methods; D006454:Hemoglobins / Q000378:metabolism; D006457:Hemoglobinuria, Paroxysmal / Q000209:etiology / Q000628:therapy*; D006461:Hemolysis / Q000502:physiology; D006801:Humans; D006976:Hypertension, Pulmonary / Q000378:metabolism; D009569:Nitric Oxide / Q000378:metabolism; D020246:Venous Thrombosis / Q000188:drug therapy / Q000517:prevention & control
D000911:Antibodies, Monoclonal; D061067:Antibodies, Monoclonal, Humanized; D018957:CD59 Antigens; D051056:Complement Inactivating Agents; D015938:Complement Membrane Attack Complex; D006454:Hemoglobins; D009569:Nitric Oxide; C481642:eculizumab