JIM 2024; 1 (2): e537
DOI: 10.61012_20245_537

Supportive care in adults with Fabry disease: low-cost interventions for high-value achievements

Topic: Inherited Metabolic Diseases in Adult Age   Category:

Abstract

Anderson-Fabry disease (or Fabry disease [FD]) is an X-linked lysosomal storage disorder that can lead to neuropathic pain, reduced physical activity, and other debilitating symptoms, besides major organ involvement, such as kidneys, heart, and central nervous system, with possible premature death. Despite specific treatments, such as enzyme replacement therapy or migalastat, adult patients may still experience clinically relevant symptoms and events. Supportive treatments are recommended, but their use is associated with disease-specific challenges. Unfortunately, few specific studies on supportive care in FD are available. Some supportive treatments, such as angiotensin-converting enzyme inhibitors and angiotensin receptor blockers, may contribute to slow disease progression. Recently, SGLT2 inhibitors have shown outstanding results in reducing morbidity and mortality in chronic kidney disease and heart failure; however, specific studies on FD are not yet available. A range of other supportive therapies may be useful in patients with FD to counteract additional mechanisms, besides substrate accumulation, in the pathogenetic course of the disease or simply to manage symptoms. In this review, we discuss the state-of-the-art of supportive care in FD, which requires a multidisciplinary approach that can significantly boost therapeutic potential and patient-centered care.

To cite this article

Supportive care in adults with Fabry disease: low-cost interventions for high-value achievements

JIM 2024; 1 (2): e537
DOI: 10.61012_20245_537

Publication History

Submission date: 31 Mar 2024

Revised on: 30 Apr 2024

Accepted on: 17 May 2024

Published online: 31 May 2024