Gaucher disease (GD) is a rare, autosomal recessive genetic disease caused by deficiency of a lysosomal enzyme (glucocerebrosidase/β-glucosidase) that leads to the accumulation of its substrate in lysosomal macrophages. GD remains rare and delayed diagnosis is common due its gradual onset. It is important to include this differential diagnosis in cases of massive splenomegaly and/or thrombocytopenia, in order to avoid potentially harmful splenectomy. This case report describes a 25-year-old female patient with a 10-year medical history of anaemia and thrombocytopenia, who presented with symptoms of haemorrhagic dyscrasia, pancytopenia and massive splenomegaly. The differential diagnosis of massive splenomegaly included several conditions which were considered but ruled out. Because of a lack of resources, the patient was forwarded to a reference centre where the diagnosis of GD was made.
Learning points:
Many diseases are associated with splenomegaly but massive splenomegaly is seen in only a few conditions.While some causes of splenomegaly are obvious (malaria, infection), the aetiological diagnosis of splenomegaly may involve extensive history taking, serum testing and imaging studies.Infiltrative disorders such as Gaucher disease are a rare cause of splenomegaly and should be considered when other more common causes have been ruled out.The authors hope to raise awareness of this diagnosis in order to encourage early treatment.