ATTRv amyloidosis is a rare condition caused by mutations in the TTR gene. This leads to toxic clumps of transthyretin protein forming in various tissues. These clumps disrupt normal tissue function and cause nerve damage. In FAP, transthyretin aggregates accumulate mainly in peripheral nerves, causing neuropathy and other neurological symptoms. Some patients also experience autonomic neuropathy, affecting digestive, urinary, and blood pressure regulation.
Sudoscan Test for Disease Monitoring
Sudoscan is a non-invasive test that evaluates nerve damage and autonomic involvement in patients with ATTRv amyloidosis. It uses a small electrical current to measure the ease of electrical flow through the skin, with higher values indicating better nerve function. While Sudoscan has proven to be a highly accurate screening tool, its ability to monitor disease progression remains uncertain.
Study Overview
Researchers in Italy studied the effectiveness of Sudoscan in monitoring disease progression in 61 patients with late-onset ATTRv amyloidosis. The patients were followed for up to four years at the Università Cattolica del Sacro Cuore in Rome. The average age of the participants at enrollment was 68.38 years, with the majority being men (75.4%). The study found that Sudoscan could effectively track changes in small nerve fiber function, providing valuable information about disease progression.
Key Findings from the Study
At the start of the study, 48 patients (78.7%) had mixed ATTRv amyloidosis, while others had FAP or cardiomyopathy. The study found that Sudoscan revealed significant reductions in foot nerve function over the study period. The mean foot electrical skin conductance (ESC) decreased from 54 microsiemens (uS) at baseline to 33 uS after three years. However, the changes in hand ESC were less significant, with a tendency to decrease over time.
Association with Disease Severity
The study also revealed strong associations between lower ESC values and greater disease severity. Patients with lower ESC scores had more severe neuropathy and autonomic dysfunction. Furthermore, ESC values were significantly lower in patients with autonomic dysfunction, as well as in those with postural hypotension, a condition where blood pressure drops when standing up.
Predicting Autonomic Dysfunction
Statistical analysis revealed that foot ESC values could predict the likelihood of autonomic dysfunction. A foot ESC value cut-off of 57.5 uS allowed the researchers to predict dysautonomia with an accuracy of 82.6%. This finding suggests that Sudoscan may serve as a reliable marker for autonomic dysfunction in ATTRv amyloidosis.
Implications for Future Clinical Trials
The researchers concluded that Sudoscan could play a role in monitoring the progression of ATTRv amyloidosis. It could also serve as a marker of disease severity and autonomic dysfunction, making it a valuable tool in future clinical trials. Sudoscan may help clinicians track the effectiveness of treatments and improve patient care.
Conclusion
Overall, Sudoscan shows potential as a non-invasive tool to monitor disease progression and autonomic dysfunction in patients with ATTRv amyloidosis. The findings underscore its importance as a diagnostic and monitoring tool, with potential applications in future clinical studies.
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