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Correlations Between Serum Cholesterol and Vascular Lesions in Fabry Disease Patients
Hiroki Katsuta1, Kazuya Tsuboi1, Hiroshi Yamamoto1
1LSD Center, Nagoya Central Hospital.
Insights
High-density lipoprotein-cholesterol (HDL-C) is elevated in Fabry disease, a genetic disorder causing globotriosylceramide (Gb3) buildup. This study links high HDL-C/total cholesterol ratios to endothelial dysfunction and cardiovascular risk in Fabry patients.
Area of Science:
- Biochemistry
- Genetics
- Cardiology
Background:
- Fabry disease is an X-linked lysosomal storage disorder characterized by globotriosylceramide (Gb3) accumulation due to alpha-galactosidase deficiency.
- Cardiovascular disease manifests early in Fabry disease patients, with unclear clinical significance of previously observed elevated serum high-density lipoprotein-cholesterol (HDL-C).
Purpose of the Study:
- To investigate the reasons behind elevated serum HDL-C in Fabry disease patients with cardiovascular involvement.
- To correlate serum lipid profiles, ocular vascular lesions, and specific biomarkers with disease progression.
Main Methods:
- Evaluated serum lipid profiles, ocular vascular lesions, and levels of vascular endothelial growth factor (VEGF) and intercellular adhesion molecule-1 in 69 genetically diagnosed Fabry disease patients.
- Analyzed the high-density lipoprotein-cholesterol to total cholesterol (HDL-C/T-Chol) ratio in relation to clinical parameters and disease severity.
Main Results:
- A significantly high HDL-C/T-Chol ratio was observed, particularly in male patients, irrespective of body mass index.
- Female patients with a high HDL-C/T-Chol ratio showed a higher incidence of ocular vascular lesions and elevated serum VEGF, indicating more severe endothelial dysfunction and arteriosclerosis.
- Enzyme replacement therapy improved Gb3 and lyso-Gb3 levels, but persistent elevations suggested ongoing vascular changes.
Conclusions:
- Elevated low-density lipoprotein-cholesterol uptake by the vascular wall, driven by endothelial dysfunction, is a likely contributor to the high HDL-C/T-Chol ratio in Fabry disease.
- The findings suggest a complex interplay between lipid metabolism, endothelial function, and cardiovascular risk in Fabry disease.
Background:
Fabry disease is an X-linked lysosomal storage disorder and shows globotriosylceramide (Gb3) accumulation in multiple organs, resulting from a deficiency of α-galactosidase. In patients with Fabry disease, cardiovascular disease occurs at an early age. Previous studies have shown that serum levels of high-density lipoprotein-cholesterol (HDL-C) increase in this disease, yet its clinical significance for cardiovascular disease remains unclear.
Methods And Results:
In order to determine why the serum HDL-cholesterol is high in various cardiovascular diseases of Fabry disease patients, we evaluated the serum lipid profiles, ocular vascular lesions, and levels of serum vascular endothelial growth factor (VEGF) and intercellular adhesion molecule-1 in 69 patients with Fabry disease diagnosed by genetic examination. The serum HDL-C/total cholesterol (T-Chol) ratio was significantly high, especially in male patients (41.5±1.7%) regardless of body mass index. Ocular vascular lesions were more likely to occur in female patients with a high HDL-C/T-Chol ratio compared with most male patients. Female patients with a high HDL-C/T-Chol ratio also presented a high serum VEGF level, suggesting that vascular endothelium dysfunction and arteriosclerotic changes progress more severely than in patients with a normal HDL-C/T-Chol ratio. In most patients, enzyme replacement therapy improved serum Gb3 and lyso-Gb3 levels, but these Gb3 and lyso-Gb3 still remained higher than in healthy controls, which appears to result in continuous vascular arteriosclerotic changes.
Conclusions:
We concluded that increased low-density lipoprotein-cholesterol uptake to the vascular wall caused by endothelial dysfunction is likely to contribute to the high HDL-C/T-Chol ratio observed in Fabry disease patients.
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