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Gaucher Disease Type I: A Case Report

Authors :
Nikolova D.
Yordanov A.
Damyanova V.
Yavorova A.
Radinov A.
Source :
Acta Medica Bulgarica, Vol 47, Iss 3, Pp 22-25 (2020)
Publication Year :
2020
Publisher :
Sciendo, 2020.

Abstract

Gaucher disease (GD) is a multi-systemic disease with a low population frequency. It is a lysosomal storage disorder (LSD) that causes accumulation of glucocerebroside in the so called Gaucher cells predominantly in areas like the spleen, liver and bone marrow. Type I GD (GDI) is the most common form and usually does not involve the brain and the spinal cord. The symptoms can range from mild to severe and may appear anytime from childhood to adulthood. Diagnostics can often be challenging and imposes looking at person’s medical history, symptoms, physical exam, and laboratory test results. We present a difficult to diagnose case of a 34-year-old woman admitted to the Clinic of Hematology, “Sv. I. Rilski” hospital with splenomegaly, normal laboratory findings and non-enlarged liver. She didn’t show focal neurological symptoms. A series of tests were assigned including genetic targeted analysis. The case is an example of a rare genetic disease with mild clinical symptoms. Diagnosis of Gaucher disease, type I was confirmed by measurement of a GBA enzyme activity and identification of mutations in the GBA gene inherited in an autosomal recessive manner. Thanks to the efforts of the clinical team, the assignment of adequate clinical and laboratory tests and their correct interpretation, the patient was subjected to enzyme replacement therapy (ERT). Although the diagnosis was settled relatively late (at 34 years of age), the correct therapy slowed down the invalidation and improved the quality of life of the patient.

Details

Language :
English
ISSN :
03241750
Volume :
47
Issue :
3
Database :
Directory of Open Access Journals
Journal :
Acta Medica Bulgarica
Publication Type :
Academic Journal
Accession number :
edsdoj.b0b427a4ef57425eabe91c75f96b4706
Document Type :
article
Full Text :
https://doi.org/10.2478/amb-2020-0029