Screening Of Patients With Fabry Disease In Low-Resource Settings – Establishing Diagnostic And Therapeutic Modalities – The Example Of Bosnia And Herzegovina
Goran Topic1, Edin Begic2, Nejra Prohic3, Ada Djozic2, Damir Rebic4, Mirna Aleckovic-Halilovic5, Tamara Kovacevic-Preradovic6, Ivica Brizic7, Mensuda Hasanhodzic8
1 Clinic for Nephrology, University Clinical Centre of the Republic of Srpska, Banja Luka, Bosnia and Herzegovina
2 Department of Cardiology, General hospital “Prim.dr. Abdulah Nakas”, Sarajevo, Bosnia and Herzegovina
3 Department of Internal medicine, General hospital “Prim.dr. Abdulah Nakas”, Sarajevo, Bosnia and Herzegovina
4 Clinic for Nephrology, Clinical Center University of Sarajevo, Sarajevo, Bosnia and Herzegovina
5 Department of Nephrology, Clinic for Internal Medicine, University Clinical Centre Tuzla, Tuzla, Bosnia and Herzegovina
6 Clinic for Cardiology, University Clinical Centre of the Republic of Srpska, Banja Luka, Bosnia and Herzegovina
7 Clinic for Cardiology, University Clinical Centre Mostar, Bosnia and Herzegovina
8 Center for rare diseases, University Clinical Centre Tuzla, Tuzla, Bosnia and Herzegovina
Corresponding Author: Goran Topic MSc., Clinic for Nephrology, University Clinical Centre of the Republic of Srpska, Banja Luka, Bosnia and Herzegovina; E-mail: goran.topic@kc-bl.com; Phone: +387 51 342-100; ORCID ID: 0009-0003-0290-7909
Cite this article: Topic G, Begic E, Prohic N, Djozic A, Rebic D, Aleckovic-Halilovic M, et al. Screening Of Patients With Fabry Disease In Low-Resource Settings – Establishing Diagnostic And Therapeutic Modalities – The Example Of Bosnia And Herzegovina. Sar Med J 2026; 3(1): Online ahead of print. 
10.70119/0044-25
Pages: – / Published online: 16 February 2026
Original submission: 10 June 2025; Revised submission: 17 June 2025; Accepted: 22 August 2025
Abstract
Fabry disease (FD) is a multisystem disorder, an X-linked lysosomal storage disease caused by decreased activity of alpha-galactosidase A, resulting in lysosomal accumulation of neutral glycosphingolipids and globotriaosylceramide (GL-3). Rare diseases represent conditions that are likely underdiagnosed, and the number of patients is certainly higher than what is reported. In the conditions found in Bosnia and Herzegovina, or generally in low-sesource settings, the diagnosis and treatment of rare diseases is challenging. There is no screening for rare diseases, no registry for them exists, and therapeutic or pharmacological options are not available. All of this represents challenges in the daily work of clinicians. The aim of this paper is to present the situation regarding the diagnosis and treatment of patients with FD in Bosnia and Herzegovina.
Keywords: rare diseases, Fabry disease, screening.
