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Published on: March 31, 2018
Plasma adiponectin is a potential biomarker for organ involvement in male Fabry disease patients
Marina Hovakimyan1, Venkata Ajay Narendra Talabattula1, Claudia Cozma1
1CENTOGENE AG, Rostock, Germany.
Insights
Plasma adiponectin levels did not differ in Fabry disease patients. However, in males, adiponectin correlated with cardiovascular and renal involvement, suggesting potential for disease stratification.
Area of Science:
- Biochemistry
- Genetics
- Endocrinology
Background:
- Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene.
- Cardiovascular and renal complications are common in Fabry disease.
- Adiponectin, a hormone linked to heart and kidney failure, has not been extensively studied in Fabry disease.
Purpose of the Study:
- To investigate plasma adiponectin levels in individuals with Fabry disease.
- To explore the association between adiponectin levels and organ involvement (cardiovascular and renal) in Fabry disease patients.
- To evaluate the combined utility of adiponectin and Lyso-Gb3 for patient identification and stratification.
Main Methods:
- Pilot study involving 56 individuals with genetically diagnosed Fabry disease.
- Measurement of plasma adiponectin levels.
- Comparison of adiponectin levels between patients and controls, and correlation with cardiovascular and renal manifestations.
- Assessment of Lyso-Gb3 metabolite levels.
Main Results:
- Plasma adiponectin levels were not significantly different between Fabry disease patients and controls.
- In male Fabry patients, decreased adiponectin was associated with cardiovascular involvement, while increased adiponectin was linked to renal involvement.
- In female patients, similar trends were observed but did not reach statistical significance.
- Lyso-Gb3 levels did not indicate organ involvement.
Conclusions:
- Adiponectin levels may serve as a potential biomarker for stratifying cardiovascular and renal involvement in male Fabry disease patients.
- Combined analysis of adiponectin and Lyso-Gb3 may aid in identifying and stratifying Fabry disease patients.
- Further research in larger cohorts is warranted to confirm the prognostic and monitoring relevance of adiponectin.
Abstract:
Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in GLA. It manifests in hemizygous males and in many heterozygous females. Cardiovascular and renal involvement are frequent. Adiponectin is a circulating hormone that has been linked to numerous disease conditions including heart and kidney failure. In the present pilot study, we investigated plasma adiponectin levels in a cohort of 56 individuals with a genetic diagnosis of Fabry disease. Adiponectin levels did not differ between patients and controls. However, in male patients, significantly decreased adiponectin levels were associated with cardiovascular manifestation, while increased levels were associated with renal involvement. Similar trends in female patients did not reach statistical significance. Lyso-Gb3, a metabolite with good diagnostic/screening performance, was not indicative of organ involvement. In combination, adiponectin and Lyso-Gb3 may be of value for identification and stratification of Fabry patients. A potential additional relevance for prognosis and monitoring should be addressed by future studies in larger cohorts.
