Abstract
Objectives. Wilson’s disease (WD) is a genetically inherited disease associated with disorder of copper metabolism and its pathological deposition in many organs (mainly in the liver and brain) and their secondary damage. Clinical symptoms of WD are mainly symptoms of liver damage (from a mild increase in the activity of liver enzymes to liver failure) and the central nervous system (CNS) (mainly a wide spectrum of involuntary movements). The article aims to review currently proposed biomarkers of CNS damage in WD: 1) clinical; 2) structural (neuroimaging) and 3) molecular, including a proposal of their future role (prognostic, diagnostic or monitoring of response to treatment).
Literature review. WD is one of the few metabolic diseases that can be treated if treatment is started early and is properly administered. Treatment of WD is based on drugs causing a negative copper balance in the body (drugs that chelate copper or zinc salts). Early diagnosis of the disease, early initiation of anti-copper therapy, regular monitoring of copper metabolism, evaluation of liver function and damage of central nervous system are essential for the good prognosis. We conducted a targeted literature review of articles in English available in PubMed, searching for “Wilson’s disease”, “biomarkers”, “neurofilaments”. Below we present summary of collected data.
Conclusions. Despite treatment, 10% of patients with WD experience early neurological deterioration, 50% of patients with neurological symptoms show no improvement. New therapies of treatment for WD, possibilities of faster diagnosis and better monitoring of the treatment are being sought. Identification and validation of WD biomarkers are necessary.