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.

Life-Threatening Adverse Reaction after Self-Initiated, Off-Label Use of High Dose Nicotinamide for the Treatment of Friedreich’s Ataxia

A 40-year old woman, previously known for Friedreich’s ataxia, presented with shock, profound lactic acidosis and hepatic failure after ingestion of a high dose of nicotinamide, the amide form of vitamin B3. On her own initiative, she was taking up to 4.4 g per day of nicotinamide, after having learned the results of a phase 2 study suggesting a potential benefit in Friedreich’s ataxia. The outcome was good with supportive care and withdrawal of nicotinamide.