Paroxysmal nocturnal haemoglobinuria is a rare, acquired haematological disease that manifests with haemolytic anaemia, thrombosis and impaired bone marrow function. The absence of two glycosylphosphatidylinositol-anchored proteins, CD55 and CD59, leads to uncontrolled complement activation that accounts for haemolysis and other paroxysmal nocturnal haemoglobinuria manifestations. Patients may present with a variety of clinical manifestations, such as anaemia, thrombosis, kidney disease, smooth muscle dystonias, abdominal pain, dyspnoea, and extreme fatigue. Delayed recognition of this condition is common due to the variable clinical presentation. This delay in diagnosis confers an increased risk of mortality and morbidity. Therefore, the purpose of this review is to raise awareness about this potentially life-threatening disease among haematologists and to provide a guide to diagnosis and treatment.
(BELG J HEMATOL 2017;8(7):259–64)