DOI: 10.12890/2022_003705

Gaucher Disease: One of the Few Causes of Massive Splenomegaly

Authors

  • Magda Garça Internal Medicine Service, Hospital of The Holy Spirit on Terceira Island, Portugal
  • Susana Correia Internal Medicine Service, Hospital of The Holy Spirit on Terceira Island, Portugal
  • André Goulart Internal Medicine Service, Hospital of The Holy Spirit on Terceira Island, Portugal
  • Paulo Ávila Internal Medicine Service, Hospital of The Holy Spirit on Terceira Island, Portugal

magdajpgarca@gmail.com

Keywords

Gaucher disease, massive splenomegaly, pancytopenia

Abstract

Gaucher disease (GD) is a rare, autosomal recessive genetic disease caused by deficiency of a lysosomal enzyme (glucocerebrosidase and B-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

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References

  1. Nguyen Y, Stirnemann J, Belmatoug N. Gaucher disease: a review. Rev Med Interne 2019;40(5):313–322. Available from: https://pubmed.ncbi.nlm.nih.gov/30638965/
  2. Kannauje PK, Pandit V, Wasnik PN, Gupta AK, Venkatesan N. Gaucher’s disease in an adult female: a rare entity. Cureus 2021;13(8):e17318. Available from: https://pubmed.ncbi.nlm.nih.gov/34557364/
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Published

2022-12-19

Issue

Vol. 9 No. 12 (2022)

How to Cite

1.
Garça M, Correia S, Goulart A, Ávila P. Gaucher Disease: One of the Few Causes of Massive Splenomegaly. EJCRIM [Internet]. 2022 Dec. 19 [cited 2026 Nov. 3];9(12). Available from: https://ejcrim.com/index.php/ejcrim/article/view/3705

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