BACKGROUND: Paroxysmal nocturnal haemoglobinuria (PNH) is a rare acquired haematopoietic stem cell disorder characterised by persistent haemolysis and platelet activation, severe end-organ damage, an increased risk of thrombosis and early mortality. We present the case of a 56-year-old male with long-standing PNH and significant disease-related morbidity who underwent steroid therapy for approximately 15 yrs before treatment with eculizumab, a humanized monoclonal antibody that blocks the terminal phase of the complement cascade at the C5 level. CASE HISTORY: The patient presented with a severely impaired quality of life in 1997 and was diagnosed with PNH 8 months later, soon after which he was commenced on steroid therapy with prednisone. During long-term steroid therapy with progressive increases in prednisone dose, the patient had frequent haemolytic episodes as well as thrombosis and renal complications. He also experienced Cushing's syndrome with arterial hypertension, insulin-dependent diabetes mellitus, osteoporosis, acne and portal fibrosis. Eculizumab therapy was started in late-2009 and led to rapid improvements in haemoglobin and lactate dehydrogenase levels with a complete cessation of haemolytic episodes. Eculizumab has been well tolerated. CONCLUSIONS: Long-term steroid therapy was not effective in controlling PNH in this patient and was associated with significant comorbidities. Treatment with eculizumab led to major improvements, even after such a long period with relatively uncontrolled disease.
BACKGROUND:Paroxysmal nocturnal haemoglobinuria (PNH) is a rare acquired haematopoietic stem cell disorder characterised by persistent haemolysis and platelet activation, severe end-organ damage, an increased risk of thrombosis and early mortality. We present the case of a 56-year-old male with long-standing PNH and significant disease-related morbidity who underwent steroid therapy for approximately 15 yrs before treatment with eculizumab, a humanized monoclonal antibody that blocks the terminal phase of the complement cascade at the C5 level. CASE HISTORY: The patient presented with a severely impaired quality of life in 1997 and was diagnosed with PNH 8 months later, soon after which he was commenced on steroid therapy with prednisone. During long-term steroid therapy with progressive increases in prednisone dose, the patient had frequent haemolytic episodes as well as thrombosis and renal complications. He also experienced Cushing's syndrome with arterial hypertension, insulin-dependent diabetes mellitus, osteoporosis, acne and portal fibrosis. Eculizumab therapy was started in late-2009 and led to rapid improvements in haemoglobin and lactate dehydrogenase levels with a complete cessation of haemolytic episodes. Eculizumab has been well tolerated. CONCLUSIONS: Long-term steroid therapy was not effective in controlling PNH in this patient and was associated with significant comorbidities. Treatment with eculizumab led to major improvements, even after such a long period with relatively uncontrolled disease.