Gaucher disease type 1: Unexpected diagnosis in a 75-year old patient presenting with splenomegaly

Minju Han; Ja Min Byun; Youngil Koh; Sung-Soo Yoon; Dahae Yang

doi:10.1016/j.currproblcancer.2021.100708

Gaucher disease type 1: Unexpected diagnosis in a 75-year old patient presenting with splenomegaly

Curr Probl Cancer. 2021 Dec;45(6):100708. doi: 10.1016/j.currproblcancer.2021.100708. Epub 2021 Jan 29.

Authors

Minju Han¹, Ja Min Byun², Youngil Koh¹, Sung-Soo Yoon¹, Dahae Yang³

Affiliations

¹ Department of Internal Medicine, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.
² Department of Internal Medicine, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea. Electronic address: jaminbyun@naver.com.
³ Department of Laboratory Medicine, Kosin University College of Medicine, Gospel University Hospital, Busan, Korea.

PMID: 33583590
DOI: 10.1016/j.currproblcancer.2021.100708

Abstract

We present a 75-year old Korean female patient harboring novel hemizygous variant mutation in glucosidase beta acid (GBA) gene, who was diagnosed with splenic marginal zone cell lymphoma and Gaucher disease (GD) concurrently. Our case is significant in that (1) it delivers the message that GD can occur at any age regardless of ethnicity and (2) we report a novel variant of pathogenic GBA mutation, and the fact that the patient harbored hemizygous mutation.

Keywords: Elderly; Gaucher disease; Splenic marginal zone lymphoma.

Publication types

Case Reports

MeSH terms

Aged
Female
Gaucher Disease / diagnosis*
Gaucher Disease / genetics*
Glucosylceramidase / genetics*
Hemizygote
Humans
Lymphoma / diagnosis*
Lymphoma / pathology*
Republic of Korea
Splenomegaly / pathology*

Substances

GBA protein, human
Glucosylceramidase