Biomarkers in Anderson-Fabry Disease

Area of Science:

• Biochemistry
• Genetics
• Medical Diagnostics

Background:

• Fabry disease is a rare lysosomal storage disorder due to alpha-galactosidase A deficiency, causing multisystemic complications.
• Current diagnosis relies on biomarkers like lyso-Gb3 (globotriaosylsphingosine) in plasma, but research seeks more effective tools.
• Managing female heterozygotes is challenging due to unpredictable clinical progression.

Purpose of the Study:

• To review existing and emerging biomarkers for Fabry disease diagnosis and management.
• To explore novel markers such as microRNAs and plasma proteomic profiles.
• To identify biomarkers that can aid in screening, diagnosis, and monitoring treatment response, especially in female heterozygotes.

Main Methods:

• Comprehensive literature review of studies on Fabry disease biomarkers.
• Analysis of current diagnostic markers, including lyso-Gb3.
• Exploration of recent proteomic and metabolomic findings and potential use of microRNAs.

Main Results:

• Lyso-Gb3 is a key plasma biomarker for classic Fabry disease.
• Ongoing research is identifying novel biomarkers, including microRNAs and plasma proteomic profiles.
• These novel markers show potential for improved disease characterization, diagnosis, and treatment monitoring.

Conclusions:

• Biomarker research is crucial for advancing Fabry disease management.
• Novel biomarkers can enhance diagnostic accuracy and treatment efficacy.
• Improved biomarkers are needed to better manage Fabry disease, particularly in female heterozygotes.