Refractory Anaemia with Excess of Blasts as a Terminal Evolution of Paroxysmal Nocturnal Haemoglobinuria

Abstract

A 63-year-old man presented with paroxysmal nocturnal haemoglobinuria (PNH). After a 31 months’ course of typical PNH the patient developed a type 1 (refractory anaemia) myelodysplastic syndrome (MDS) which subsequently evolved into type 5 (refractory anaemia with excess of blasts in transformation) myelodysplastic syndrome. At this time, bone marrow chromosomal analysis revealed a clonal pseudodiploidy (46 XY, -10, -16, -20, +3 markers) while phytohaemagglutinin-stimulated blood lymphocytes had a normal male karyotype. Both the acid haemolysis and thrombin tests remained positive throughout the course of the disease. This case report emphasizes the link between PNH and the myelodysplastic syndromes. Serial chromosomal analysis may help to define the myelodysplastic potential of PNH

Paroxysmal nocturnal hemoglobinuria: New discoveries about an old disease

“…Episodic substernal or abdominal pain is present in about 30% of patients with PNH, and may be due to thrombosis of the portal, mesenteric, or hepatic veins (Budd-Chiari syndrome) (20.21). PNH sometimes arises in a clinical setting of drug-induced marrow aplasia, myelofibrosis, niyelodysplasia, or erythroleukemia, and patients in whom the diIjease develops have increased frequency of acute myelogenous leukemia (22,23). Evans' syndrome, autoimmune hemolytic anemia, papillary endothelial hyperplasia, pulmonary hypertension, amyloidosis have also been reported in patients with PNH as well as a variety of hematologic diseases, including malignant lymphoma, myelodysplasia, and acute myelogenous leukemia (24)(25)(26)(27)(28)(29)(30)(31)(32).…”