Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: A multidisciplinary Turkey perspective

Orphanet J Rare Dis. 2022 Mar 2;17(1):90. doi: 10.1186/s13023-022-02215-x.

PMID: 35236382

Fatih Ezgu, Erkan Alpsoy, Zerrin Bicik Bahcebasi

Highlights: This consensus statement aimed to identify areas of consensus on conceptual, clinical and therapeutic aspects of Fabry disease (FD) and to provide guidance to healthcare providers on best practice in the management of pediatric and adult patients with FD.

Abstract

Objective: A panel of Fabry experts developed this consensus statement in order to highlight areas of agreement regarding the conceptual, clinical, and therapeutic aspects of Fabry disease (FD) and to advise healthcare professionals on best practices for the management of both pediatric and adult patients with FD. This consensus statement highlighted the necessity for a customized approach to patient management by highlighting the clinical heterogeneity of FD as well as a significant number of pathogenic variants in the GLA gene. Given the possibility of altering the disease's natural history, improving patients' quality of life, and improving prognosis after enzyme replacement therapy (ERT) administered through a coordinated, multidisciplinary care approach, the experts emphasized the crucial role of timely recognition of FD with minimal delay from symptom onset to definite diagnosis in better managing FD patients. To help clinicians recognize FD with a well-established clinical suspicion consistent with pathogenic variants and gender-based heterogeneous clinical manifestations of FD and to translate this information into their clinical practice for best practice in the management of patients with FD, it is anticipated that this consensus document will raise physicians' awareness of the distinctive characteristics of FD.

Keywords: Awareness, Diagnosis, Expert panel, Fabry disease, Heterogeneity, Multidisciplinary approach, Pathogenic variants, Screening