An Intriguing Case of Anaemia and Splenomegaly

Objectives: Thrombocytopenia and splenomegaly are common features in several haematological disorders. Gaucher disease (GD) is a rare lysosomal storage disorder frequently characterized by thrombocytopenia and splenomegaly, which represents a clinical challenge for haematologists and internists. Case: We describe the case of a 37-year-old patient with a diagnosis of spherocytosis since childhood, who developed hepatic failure and presented striking features of GD including hepatosplenomegaly, bone fractures and post-partum bleeding. We reconsidered the diagnosis of spherocytosis and investigated Gaucher disease. Conclusion: GD should be considered in the differential diagnosis of thrombocytopenia and splenomegaly.

Hemophagocytic Lymphohistiocytosis Complicating Myelodysplasia

We describe a 62-year-old patient with a 4-year history of myelodysplasia who later developed striking features that included massive splenomegaly, rapidly evolving visual loss and a sensorimotor polyneuropathy. This led us to consider the diagnosis of haemophagocytic lymphohistiocytosis (HLH). Upon further investigation, we found that he fulfilled the necessary diagnostic criteria for HLH, including the presence of haemophagocytosis of erythroid precursors on bone marrow smear.