Classic Fabry disease: a clinical case presentation in a resident of Transcarpathia

Olena Ye Fartushna,Stanislav K Yevtushenko,Olha G Selina,Hanna V Palahuta,Rostyslav Yatsynyn,Gabriele M Tvaskus,Yevhen M Fartushnyi

doi:10.22141/2224-0713.17.4.2021.237595

Abstract

Background. Fabry disease is an inherited X-linked disorder of α-galactosidase deficiency that results in the accumulation of globotriaosylceramide and related neutral glycosphingolipids and may cause a wide range of symptoms affecting multiple systems. We aimed to provide a narrative literature overview of Fabry disease, with a clinical case presentation. Materials and methods. We provided a comprehensive clinical, neurological, laboratory, and instrumental analysis of Fabry disease in a young white adult admitted to the Regional Clinical Center of Neurosurgery and Neurology (Uzhhorod, Ukraine). Results and conclusions. We have presented a brief literature overview of the disease, supported with a clinical case of classic Fabry disease in a young white resident of Transcarpathia.

Highlights

Lysosomal storage disorders are a group of heterogeneous diseases caused by compromised enzyme function leading to multiple organ failure [1]
The purpose of the study: we aimed to provide a narrative literature overview of Fabry disease with a clinical case presentation
Lysosomal storage diseases are a group of nearly 60 inherited disorders characterized by inappropriate lipid accumulation in lysosomes due to specific enzyme deficiencies

Summary

Introduction

Lysosomal storage disorders are a group of heterogeneous diseases caused by compromised enzyme function leading to multiple organ failure [1]. Fabry disease is a rare X-linked deficiency of α-galactosidase activity in lysosomes that results in the accumulation of globotriaosylceramide and related neutral glycosphingolipids [2]. This article presents a brief literature overview of the disease with a clinical case of classic Fabry disease in a resident of Transcarpathia (Ukraine). Fabry disease is an inherited X-linked disorder of α-galactosidase deficiency that results in the accumulation of globotriaosylceramide and related neutral glycosphingolipids and may cause a wide range of symptoms affecting multiple systems. We aimed to provide a narrative literature overview of Fabry disease, with a clinical case presentation. We have presented a brief literature overview of the disease, supported with a clinical case of classic Fabry disease in a young white resident of Transcarpathia.

Objectives

Results

Conclusion