Premature vascular deterioration in young patients affected by Wilson’s disease: a pilot study

Georgios Kouvelas, Pier Paolo Bassareo, Valentina Pisano, Luigi Demelia, Anna Maria Nurchi, Giuseppe Mercuro

Abstract


Introduction: Wilson’s disease (WD) is a genetically inherited pathology which leads to an excessive deposition of copper in the human tissues, most of all in those of liver and brain. Even the cardiovascular system may be involved, although heart and vessels in those suffering from WD were fleetingly studied. This research aimed at evaluating the autonomic control of blood pressure (BP) and the endothelial function in a sample of young WD subjects.

Methods: Eleven WD individuals were recruited in the study (54% females; mean age and age at diagnosis: 16.3 ± 5.0 and 8.3 ± 4.0 years, respectively). BP was measured at the right arm (supine and upright after 3 minutes of standing) and ankle-brachial index (ABI) was evaluated as well. WD findings were compared with those of healthy peers (controls).

Results: In those with WD, systolic BP in the upright position raised when compared to the value in the supine position (128 ± 2 vs 112 ± 3 mmHg, p < 0.002), while declined in the controls. ABI was significantly lower in WD group (0.9 ± 0.2 vs 1.1 ± 0.1 in the control group, p < 0.05) and an inverse correlation was found between the disease duration and ABI as well (r = -0.66, p < 0.03).

Conclusions: These preliminary results suggest an early vascular de­terioration in WD patients, notwithstanding their very young age and concomitant copper-chelating treatment. Although the heart and vessels are not the main target of WD, the detection of this unique population, potentially predisposed to cardiovascular accidents, suggests to enhance strategies of primary prevention.


Keywords


Wilson’s disease; copper; dysautonomia; blood pressure; endothelium; prevention

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