Multidisciplinary Management of Fabry Disease: Current Perspectives

Area of Science:

• Genetics
• Biochemistry
• Internal Medicine

Background:

• Fabry disease (FD) is a rare, X-linked lysosomal storage disorder (LSD) caused by alpha-galactosidase A (α-GalA) deficiency due to a GLA gene variant.
• This deficiency leads to progressive accumulation of globotriaosylceramide (Gb3) in various organs, including the kidneys, heart, and brain.
• The widespread Gb3 deposition results in a diverse range of clinical manifestations and potentially life-threatening complications.

Purpose of the Study:

• To review the clinical features of Fabry disease.
• To discuss current perspectives in the multidisciplinary management of FD patients.

Main Methods:

• Literature review of clinical features and management strategies for Fabry disease.
• Synthesis of information on genetic basis, pathophysiology, clinical manifestations, and therapeutic approaches.

Main Results:

• FD presents with a wide spectrum of often unspecific clinical signs due to Gb3 accumulation.
• Severe complications include cardiac arrhythmias, sudden cardiac death, kidney failure, and stroke.
• Multidisciplinary management is crucial for addressing the multisystemic nature of the disease.

Conclusions:

• Fabry disease requires a comprehensive, multidisciplinary approach for effective management.
• Early diagnosis and intervention are key to mitigating severe complications and improving patient outcomes.