Hepato Neurologic Wilson Disease, also known as Wilson's disease or hepatolenticular degeneration, is an autosomal recessive genetic disorder characterized by the abnormal accumulation of copper in various tissues throughout the body. This disorder primarily affects the liver and the central nervous system.
In normal individuals, copper is absorbed by the intestines, processed in the liver, and then transported to the bile for excretion. However, in individuals with Wilson disease, mutations in the ATP7B gene disrupt the liver's ability to transport and excrete copper, leading to copper buildup in the liver and subsequent release into the bloodstream. As a result, excess copper is deposited in multiple organs, including the liver, brain, kidneys, and corneas.
Hepato Neurologic Wilson Disease typically presents in childhood or adolescence, but it can also appear in adulthood. Symptoms vary widely and can include liver dysfunction (such as hepatitis, jaundice, hepatomegaly), neurological manifestations (such as tremors, dystonia, dysarthria), psychiatric symptoms (such as depression, personality changes), and Kayser-Fleischer rings around the corneas. If left untreated, the disease can progress and cause severe liver and neurological damage, leading to life-threatening complications.
Diagnosis of Hepato Neurologic Wilson Disease often involves various tests such as blood tests to measure copper levels, genetic testing to identify mutations, and liver biopsy to assess the extent of liver damage. Treatment involves lifelong administration of copper-chelating agents, which bind to excess copper and promote its excretion through the urine. In severe cases, a liver transplant may be necessary to replace the dysfunctional liver.
Early diagnosis and treatment are crucial for individuals with Hepato Neurologic Wilson Disease to prevent irreversible organ damage and improve long-term outcomes.
