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.

An intriguing case of anaemia and splenomegaly / E. Poggiali, I. Nava, M. Giuditta, L. Duca, E. Cassinerio. - In: EUROPEAN JOURNAL OF CASE REPORTS IN INTERNAL MEDICINE. - ISSN 2284-2594. - (2014), pp. 1-5. [10.12890/2014_000121]

An intriguing case of anaemia and splenomegaly

E. Poggiali;L. Duca
Penultimo
;
2014

Abstract

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.
Spherocytosis; Gaucher disease; splenomegaly; lysosomal disorder; thrombocytopenia
Settore MED/09 - Medicina Interna
Settore MED/15 - Malattie del Sangue
2014
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/258506
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