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VCAM-1 as a biomarker of early cardiac phenotypic changes in Fabry disease
Danielli Oliveira da Costa Lino1,2, Gdayllon Cavalcante Meneses3, Igor Moreira de Almeida3
1Division of Cardiology, Hospital do Coração de Messejana, Fortaleza, Ceara, Brazil.
Insights
Vascular cell adhesion molecule-1 (VCAM-1) is elevated in Fabry disease (FD) and linked to early cardiac changes. This suggests VCAM-1 may be a useful biomarker for monitoring early Fabry cardiomyopathy.
Area of Science:
- Cardiology
- Genetics
- Biomarkers
Background:
- Fabry disease (FD) is an X-linked lysosomal storage disorder.
- FD results from alpha-galactosidase A deficiency, causing globotriaosylceramide accumulation.
- Endothelial activation and cardiac involvement are key features of FD.
Purpose of the Study:
- To investigate the association between vascular cell adhesion molecule-1 (VCAM-1) and early cardiac changes in FD.
- To explore VCAM-1 as a potential biomarker for early Fabry cardiomyopathy.
Main Methods:
- Cross-sectional study of 14 FD patients with the GLA p.Arg363His variant and 30 controls.
- Cardiac assessments included ECG, echocardiography with GLS, and cardiac MRI (CMR).
- Serum VCAM-1, IL-6, and syndecan-1 levels were measured.
Main Results:
- VCAM-1 levels were significantly higher in FD patients compared to controls.
- Elevated VCAM-1 correlated with ventricular remodeling, incipient hypertrophy, and longer symptom duration.
- Diastolic dysfunction and GLS abnormalities were common in FD patients, preceding overt hypertrophy.
Conclusions:
- VCAM-1 is substantially elevated in FD and associated with early cardiac structural and functional changes.
- VCAM-1 shows promise as a candidate biomarker for monitoring early Fabry cardiomyopathy.
- Further longitudinal studies are warranted to validate VCAM-1's clinical utility.
Background:
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, leading to globotriaosylceramide accumulation, endothelial activation, inflammation, and progressive cardiac involvement. In this exploratory cross-sectional study, we investigated whether vascular cell adhesion molecule-1 (VCAM-1), an endothelial activation biomarker, is associated with early cardiac phenotypic changes in FD.
Methods:
This single-center cross-sectional study included 14 genetically confirmed FD adults from one family carrying the GLA p.Arg363His variant and 30 age- and kidney-function-matched healthy controls for biomarker comparisons. FD participants underwent clinical assessment, 12-lead electrocardiography, transthoracic echocardiography with global longitudinal strain (GLS), and cardiac magnetic resonance (CMR) including native T1 mapping and late gadolinium enhancement. Serum VCAM-1, interleukin-6 (IL-6), and syndecan-1 were measured. Group comparisons used Mann-Whitney and Fisher exact tests; correlations used Spearman coefficients.
Results:
Median age was 30.5 (24-48) years, and 78.6% were female. Only one participant (7.1%) showed concentric left ventricular hypertrophy, whereas diastolic dysfunction was present in 42.9%, and global or segmental GLS abnormalities in 57.2%. CMR showed no increased LV mass, but papillary muscle abnormalities were frequent (57.2%); LGE and low native T1 were present in 14.3% each. VCAM-1 was markedly higher in FD than controls [2634.2 (2048.7-3173.6) vs. 671.7 (490.3-765.1) ng/mL; p < 0.001]. Within FD participants, VCAM-1 was higher among those with ventricular remodeling or incipient hypertrophy (p = 0.043) and showed a borderline association with less negative GLS values (rho = 0.526; p = 0.053). VCAM-1 also correlated with longer symptom duration (rho = 0.566; p = 0.044). IL-6, but not syndecan-1, was higher in FD than controls.
Conclusion:
VCAM-1 was substantially elevated in this FD family cohort and was associated with early structural and functional cardiac markers before overt hypertrophy. These results do not yet justify changes in clinical practice, but they support VCAM-1 as a candidate biomarker for future longitudinal studies of early Fabry cardiomyopathy.
