Gaucher Disease Type I: A Case Report

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 for...

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Autores principales:	Nikolova D., Yordanov A., Damyanova V., Yavorova A., Radinov A.
Formato:	article
Lenguaje:	EN
Publicado:	Sciendo 2020
Materias:	gaucher disease genetic test diagnostics Medicine R
Acceso en línea:	https://doaj.org/article/b0b427a4ef57425eabe91c75f96b4706
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spelling	oai:doaj.org-article:b0b427a4ef57425eabe91c75f96b47062021-12-02T17:31:30ZGaucher Disease Type I: A Case Report0324-175010.2478/amb-2020-0029https://doaj.org/article/b0b427a4ef57425eabe91c75f96b47062020-09-01T00:00:00Zhttps://doi.org/10.2478/amb-2020-0029https://doaj.org/toc/0324-1750Gaucher 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.Nikolova D.Yordanov A.Damyanova V.Yavorova A.Radinov A.Sciendoarticlegaucher diseasegenetic testdiagnosticsMedicineRENActa Medica Bulgarica, Vol 47, Iss 3, Pp 22-25 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	gaucher disease genetic test diagnostics Medicine R
spellingShingle	gaucher disease genetic test diagnostics Medicine R Nikolova D. Yordanov A. Damyanova V. Yavorova A. Radinov A. Gaucher Disease Type I: A Case Report
description	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.
format	article
author	Nikolova D. Yordanov A. Damyanova V. Yavorova A. Radinov A.
author_facet	Nikolova D. Yordanov A. Damyanova V. Yavorova A. Radinov A.
author_sort	Nikolova D.
title	Gaucher Disease Type I: A Case Report
title_short	Gaucher Disease Type I: A Case Report
title_full	Gaucher Disease Type I: A Case Report
title_fullStr	Gaucher Disease Type I: A Case Report
title_full_unstemmed	Gaucher Disease Type I: A Case Report
title_sort	gaucher disease type i: a case report
publisher	Sciendo
publishDate	2020
url	https://doaj.org/article/b0b427a4ef57425eabe91c75f96b4706
work_keys_str_mv	AT nikolovad gaucherdiseasetypeiacasereport AT yordanova gaucherdiseasetypeiacasereport AT damyanovav gaucherdiseasetypeiacasereport AT yavorovaa gaucherdiseasetypeiacasereport AT radinova gaucherdiseasetypeiacasereport
_version_	1718380574820794368

Gaucher Disease Type I: A Case Report

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