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This coordinated statement by the Fabry Disease Expert Group was created with the aim of identifying areas where experts agreed on the conceptual, clinical and therapeutic aspects of Fabry disease. In addition, it was aimed at providing medical professionals with advice on the best methods of managing patients with Fabry's disease in both adults and children. This agreed statement notes the clinical heterogeneity of FD and the multitude of pathogenic variants of the GLA gene. This highlights the importance of an individual approach to the treatment of patients. Experts agreed that a high index of suspicion in patients with symptoms and screening of certain risk groups are crucial for a timely and accurate diagnosis of FD. They also increase the awareness of attending physicians about various pathogenetic variants and their clinical consequences. Experts stressed the vital importance of timely detection of fistula with minimal delay from the onset of symptoms to an accurate diagnosis in order to improve the management of patients with fistula. This is due to the possibility of changing the natural course of the disease, improving the quality of life of patients and prognosis after enzyme replacement therapy as part of a coordinated treatment approach that includes the joint use of various disciplines. It is expected that this agreed document will increase the awareness of physicians about the unique characteristics of FD to help them recognize FD with reasonable clinical suspicion, corresponding to pathogenic variants and heterogeneous clinical manifestations of FD based on gender. As a result, doctors will be able to integrate  this information into their clinical practice to ensure the best practice for managing patients with FD.

  • Read count 9
  • Date of publication 01-11-2024
  • Main LanguageIngliz
  • Pages64-73
English

This coordinated statement by the Fabry Disease Expert Group was created with the aim of identifying areas where experts agreed on the conceptual, clinical and therapeutic aspects of Fabry disease. In addition, it was aimed at providing medical professionals with advice on the best methods of managing patients with Fabry's disease in both adults and children. This agreed statement notes the clinical heterogeneity of FD and the multitude of pathogenic variants of the GLA gene. This highlights the importance of an individual approach to the treatment of patients. Experts agreed that a high index of suspicion in patients with symptoms and screening of certain risk groups are crucial for a timely and accurate diagnosis of FD. They also increase the awareness of attending physicians about various pathogenetic variants and their clinical consequences. Experts stressed the vital importance of timely detection of fistula with minimal delay from the onset of symptoms to an accurate diagnosis in order to improve the management of patients with fistula. This is due to the possibility of changing the natural course of the disease, improving the quality of life of patients and prognosis after enzyme replacement therapy as part of a coordinated treatment approach that includes the joint use of various disciplines. It is expected that this agreed document will increase the awareness of physicians about the unique characteristics of FD to help them recognize FD with reasonable clinical suspicion, corresponding to pathogenic variants and heterogeneous clinical manifestations of FD based on gender. As a result, doctors will be able to integrate  this information into their clinical practice to ensure the best practice for managing patients with FD.

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