Clinical Report: Could Omics Improve Fabry Disease Diagnosis?

Overview

Multi-omics research is identifying potential biomarkers that could improve the detection and monitoring of Fabry disease, particularly when established laboratory tests do not fully reflect organ involvement.

Background

Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to significant organ damage over time. Diagnosis is complicated due to variable clinical presentations and limitations of existing laboratory tests.

Data Highlights

No numerical data presented in the source material.

Key Findings

• Transcriptomics, proteomics, and metabolomics may supplement traditional diagnostic approaches for Fabry disease.
• Proteomic studies have identified candidate biomarkers in blood and urine associated with disease complications.
• Transcriptomic analysis of Fabry podocytes revealed 247 genes with altered expression related to kidney damage.
• Similar molecular changes have been observed in cardiac disease.
• Current evidence does not support routine multi-omics testing due to small and heterogeneous patient groups.

Clinical Implications

Further validation of proposed biomarkers in larger cohorts is necessary before clinical implementation.

Conclusion

Further studies are required to establish the clinical utility of these biomarkers.

Related Resources & Content

1. The Analytical Scientist, A Molecular Map of Fabry Disease, 2026 -- A Molecular Map of Fabry Disease
2. Frontiers in Cardiovascular Medicine, Case Report: Fabry disease mimicking coronary artery disease and hypertrophic cardiomyopathy—a 15-year diagnostic delay, 2026 -- Case Report: Fabry disease mimicking coronary artery disease and hypertrophic cardiomyopathy—a 15-year diagnostic delay
3. The Pathologist, Faster Fibrosis Diagnosis, 2018 -- Faster Fibrosis Diagnosis
4. 2023 ESC Guidelines for the management of cardiomyopathies | European Heart Journal | Oxford Academic -- 2023 ESC Guidelines for the management of cardiomyopathies
5. the analytical scientist — Faster Fibrosis Diagnosis
6. Role of cardiovascular multimodality imaging in the evaluation of Anderson–Fabry disease: from early diagnosis to therapy monitoring
7. 2023 ESC Guidelines for the management of cardiomyopathies | European Heart Journal | Oxford Academic
8. Long-Term Enzyme Replacement Therapy and Renal Outcomes in Fabry Disease: A Systematic Review and Meta-Analysis - PMC