Unusual Presentation of Aplastic Anaemia: Evolving into Myelodysplastic Syndrome with Excess Blasts 1 and Type III Paroxysmal Nocturnal Haemoglobinuria Clone

Abstract

Aplastic Anaemia (AA) is an immune mediated, primary haematopoietic disorder characterised by pancytopenia with significant morbidity and mortality. Allogeneic Haematopoietic Stem Cell Transplant (HSCT) is the treatment of choice in younger patients whenever Human Leucocyte Antigen (HLA) matched donor is available. For older patients and those in whom matched donor is not available, immunosuppressive therapy is the frontline treatment. With the long survivals of AA patients, clonal evolution into Myelodysplastic Syndrome (MDS) and clinically evident Paraoxysmal Nocturnal Haemoglobinuria (PNH) is frequently seen over a period of 5-10 years. The prognosis and overall survival of post AA, MDS is poor and the only treatment of choice is Allogeneic HSCT. The overall survival of post AA, MDS is however comparable to de novo MDS post-transplant. The authors hereby discuss a case of 26-year-old male patient, known case of AA who evolved into MDS with Excess Blasts 1 (MDS-EB-1) and type III PNH clone over a period of six years.

Keywords

• haematopoietic stem cell transplant
• human leucocyte antigen
• immunosuppressive therapy
• pancytopenia