Wilson Disease

Excerpt

Wilson disease, also known as hepatolenticular degeneration, is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, leading to abnormal copper accumulation in the liver, brain, cornea, and other organs. This condition primarily affects the liver, brain, cornea, and lens but can also impact other organ systems, including the heart, leading to nonischemic cardiomyopathy, and the bones, resulting in arthritis, and the kidneys, causing proximal renal tubular dysfunction.

Overt symptoms are primarily related to the nervous and hepatic systems. Liver-related symptoms include jaundice and pruritus, as well as nonspecific nausea, vomiting, and lower extremity edema. Jaundice is primarily driven by concurrent hemolytic anemia. Extrapyramidal symptoms include neuropsychiatric symptoms, including tremors, hypophonia, dysarthria, mood or personality changes, anxiety, and auditory or visual hallucinations. Most individuals with Wilson disease present with liver-related symptoms in the first decade of life and neuropsychiatric symptoms within the third or fourth decades of life. Wilson disease is rare and, if not recognized or treated, can be fatal.

The condition is typically diagnosed through serologic and urine testing, ocular examinations, and, in some cases, liver biopsy. If untreated, Wilson disease can be fatal, particularly due to acute liver failure. Treatment involves copper chelation therapy using agents like D-penicillamine and trientine, as well as zinc supplementation to reduce copper absorption. In severe cases, liver transplantation may be necessary. Emerging therapies, including novel chelators and gene therapy approaches, are under investigation. Early detection and lifelong management are critical for improving patient outcomes.