An Intriguing Case of Anaemia and Splenomegaly

Poggiali, Erika and Nava, Isabella and Giuditta, Marianna and Duca, Lorena and Cassinerio, Elena (2014) An Intriguing Case of Anaemia and Splenomegaly. European Journal of Case Reports in Internal Medicine, 1 (1). pp. 1-5. ISSN 2284-2594

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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.

Item Type: Article
Uncontrolled Keywords: Spherocytosis, Gaucher disease, splenomegaly, lysosomal disorder, thrombocytopenia
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale)
Depositing User: Chiara D'Arpa
Date Deposited: 07 Sep 2016 15:20
Last Modified: 07 Sep 2016 15:20

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