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Giliberti et al. J Transl Genet Genom 2024;8:340-54 https://dx.doi.org/10.20517/jtgg.2024.41 Page 350

Gastrointestinal symptoms, such as delayed gastric emptying, can be treated with metoclopramide, while
dyspepsia is managed with H2 blockers. Dietary adjustments, including increased fiber intake and smaller,
more frequent meals, can help manage dysmotility and diarrhea [78,79] .

[80]
For pulmonary involvement, bronchodilators are used to relieve airway obstruction .

Hearing loss is addressed with hearing aids or cochlear implants .
[81]
[82]
Dermatological issues, including angiokeratomas, have a limited response to laser or cosmetic treatments .

This multifaceted strategy is designed to address the diverse pathological manifestations of the disease,
ultimately improving overall patient health and quality of life.

Considering the multi-organ involvement and the need for supportive therapy for each organ and system,
the multidisciplinary management of the patient by a team of disease experts is essential [6,72,83] .

CONCLUSIONS
Despite advancements in research and therapeutic approaches, currently approved treatments for Fabry
disease remain limited to agalsidase α, agalsidase ß, pegunigalsidase α, and migalastat. Access to ERT and
chaperone therapy varies significantly across different countries, depending on regional healthcare systems
and resources.

Early diagnosis of both classic and non-classic forms of Fabry disease is crucial but remains challenging due
to their rarity within an already rare condition. This underscores the need for collaboration among diverse
healthcare professionals to ensure precise and timely care. Furthermore, it is essential to recognize not only
the physical changes resulting from the genetic defect but also its profound impact on quality of life. Today,
there is a growing emphasis on the comprehensive evaluation of individuals with rare diseases, driving
scientific research toward personalized therapies tailored to meet the unique needs of each patient. These
therapies aim not only to address the symptoms but also to improve their quality of life.

Certainly, the collaboration between established and emerging therapeutic options holds promise for
favorable outcomes for the treatment of Fabry disease.

DECLARATIONS
Acknowledgments
This work was generated within the European Reference Network for Rare Kidney Diseases (ERKnet).

Authors’ contributions
Design of the study, literature search, writing, editing: Giliberti M
Literature search, writing: Robles S, Campilongo G, Serena Russo M, Di Leo V
Critical review of the manuscript: Gesualdo L

Availability of data and materials
Not applicable.