WILSON'S DISEASE: KEY CLINICAL MANIFESTATIONS

Abstract

Wilson's Disease is a rare genetic disorder characterized by excessive accumulation of copper in many organs. It has severe clinical implications, including hepatic, neurological, and psychiatric damage, leading to a wide range of symptoms. It is caused by mutations in the ATP7B gene on chromosome 13 and is inherited in an autosomal recessive manner. Liver disease is the first clinical manifestation in 40-60% of Wilson's Disease cases, although it may be accompanied by other symptoms, usually the first finding in children and young people is mild to moderate fatty liver. After the liver manifestations, neurological symptoms are the most common clinical findings, including tremors, dystonia, parkinsonism, gait disturbances, dysarthria, and dysphagia. Diagnosis is made by a combination of clinical signs, and treatment aims to remove the accumulated copper and prevent its recurrence. Wilson's Disease can present with several symptoms and its clinical presentation is quite varied. Therefore, this review aims to highlight the key manifestations to help general practitioners include this comorbidity in their differential diagnoses.