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Increased Soluble Interleukin 6 Receptors in Fabry Disease
Livia Lenzini1, Elisabetta Iori2, Monica Vettore2
1Internal & Emergency Medicine Unit, Department of Medicine, Padova University Hospital, 35128 Padova, Italy.
Journal of Clinical Medicine
|January 11, 2024
Summary
Fabry disease (FD) involves elevated soluble IL-6 receptor (sIL-6R) in plasma, suggesting interleukin-6 (IL-6) contributes to inflammation and organ damage in this lysosomal storage disorder.
Area of Science:
- Biochemistry
- Genetics
- Immunology
Background:
- Fabry disease (FD) is an X-linked lysosomal storage disorder caused by globotriaosylceramide (Gb3) accumulation.
- This accumulation leads to irreversible organ damage, with inflammatory mechanisms not fully understood.
Purpose of the Study:
- To investigate the role of the interleukin-6 (IL-6) system in adult FD patients.
- To compare IL-6 system components in plasma and exosomes between FD patients and healthy controls.
Main Methods:
- Analyzed plasma and urinary exosomes from 20 FD patients and 15 healthy controls.
- Measured soluble IL-6 receptor (sIL-6R) using ELISA.
- Quantified membrane-bound IL-6R on exosomes via flow cytometry.
Main Results:
- FD patients showed significantly higher plasma sIL-6R levels compared to controls (28.0 vs. 18.9 ng/mL).
- Higher sIL-6R levels were observed in classical FD compared to late-onset forms.
- Urinary exosomes showed a slightly lower percentage of IL-6R positivity in FD patients.
Conclusions:
- Elevated plasma sIL-6R in FD patients suggests a prevailing IL-6 pathogenic signal.
- The IL-6 system may play a role in triggering inflammation and multi-systemic damage in Fabry disease.
