Autonomic Dysfunction in Wilson's Disease: A Comprehensive Evaluation during a 3-Year Follow Up

Area of Science:

• Neurology
• Cardiology
• Autonomic Neuroscience

Background:

• Wilson's disease is associated with autonomic dysfunction, but comprehensive evaluations and longitudinal data are limited.
• Understanding autonomic function changes during continuous therapy is crucial for managing Wilson's disease.

Purpose of the Study:

• To comprehensively evaluate autonomic function in Wilson's disease patients.
• To assess the stability of autonomic function over a 3-year follow-up period during optimal treatment.

Main Methods:

• Recruited 26 Wilson's disease patients and 26 controls, with 20 patients reassessed after 3 years.
• Utilized dysautonomia questionnaires, 24-h BP/HR monitoring, and cardiovascular autonomic function tests (deep breathing, Valsalva, handgrip, tilt).
• Performed baroreflex sensitivity and spectral analyses using trigonometric regressive spectral analysis.

Main Results:

• Wilson's disease patients showed higher heart rate, lower Valsalva ratio, reduced heart rate increase during handgrip, and decreased baroreflex sensitivity compared to controls.
• Over 3 years, baroreflex sensitivity at rest decreased, with mild declines in resting DBP and heart rate variability.
• Neurological onset patients had significantly worse autonomic parameters, with symptom severity correlating to specific autonomic function tests.

Conclusions:

• Wilson's disease involves cardiovascular autonomic dysfunction in both sympathetic and parasympathetic branches, notably in patients with neurological symptoms.
• Autonomic function remains generally stable in Wilson's disease patients undergoing optimal maintenance therapy.
• Mild longitudinal changes in specific autonomic parameters may occur despite stable overall function.