An Intriguing Case of Anaemia and Splenomegaly

  • Erika Poggiali Department of Internal Medicine, IRCCS Ca’ Granda Foundation Maggiore Policlinico Hospital, University of Milan, Milan Department of Clinical Sciences and Community Health, University of Milan, Milan
  • Isabella Nava Department of Internal Medicine, IRCCS Ca’ Granda Foundation Maggiore Policlinico Hospital, University of Milan, Milan
  • Marianna Giuditta Department of Internal Medicine, IRCCS Ca’ Granda Foundation Maggiore Policlinico Hospital, University of Milan, Milan Department of Cardiovascular Medicine, IRCCS Ca’ Granda Foundation Maggiore Policlinico Hospital, University of Milan, Milan
  • Lorena Duca Department of Internal Medicine, IRCCS Ca’ Granda Foundation Maggiore Policlinico Hospital, University of Milan, Milan
  • Elena Cassinerio Department of Internal Medicine, IRCCS Ca’ Granda Foundation Maggiore Policlinico Hospital, University of Milan, Milan

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.

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References

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Cassinerio E, Graziadei G, Poggiali E. Gaucher disease: a diagnostic challenge for internists, Eur J Intern Med 2014;25:117–124.

Thomas AS, Mehta A, Hughes DA. Gaucher disease: haematological presentations and complications, Br J Haematol 2014;165:427–440.

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Mistry PK, Cappellini MD, Lukina E, Ozsan H, Mach Pascual S, Rosenbaum H et al. A reappraisal of Gaucher disease: diagnosis and disease management algorithms, Am J Hematol 2011;86:110–115.

Published: 2014-10-02

Issue: Vol. 1 (2014) (view)

Section: Articles

How to cite:
Poggiali, E., Nava, I., Giuditta, M., Duca, L., & Cassinerio, E. (2014). An Intriguing Case of Anaemia and Splenomegaly. European Journal of Case Reports in Internal Medicine, 1(1). https://doi.org/10.12890/2014_000121

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