Wilson's Disease: The disease that should never be missed. A Comprehensive Evaluative Descriptive Study of a sample of patients with Wilson's Disease

      Аннотация: This book is a rich literature review and a comprehensive descriptive study in this inherited disorder of copper metabolism with genetic carrier frequency of approximately 1% of the population; that causes copper accumulation in various body organs causing severe brain damage, liver failure and death (Wilson's Disease); it is potentially treatable and even curable if it is diagnosed promptly and treated consistently and normal life expectancy can be achieved if lifelong medical treatment is started in pre-symptomatic phase before cirrhosis. Wilson's Disease should be considered in any person younger than 30 years with liver disease, the combination of liver disease with neurological abnormalities, or with hemolysis strongly suggests it and should never be missed. The aims of this study were to assess socio-demographic distribution, clinical presentations, clinical manifestations, investigation, effect of diagnostic delay and therapeutic evaluation of a sample of patients with this disease. This book aims to increase awareness among health professionals about various presentations of Wilson's Disease, because early detection and management can prevent devastating consequences.

Ключевые слова: wilson almadi kayser liver