Wilson disease

Wilson disease is a very rare inherited condition that affects multiple organ systems, including the liver and central nervous system, due to abnormal copper accumulation. It is caused by pathogenic variants in the ATP7B gene, which impair the body’s ability to eliminate copper. Typically, individuals present with a range of symptoms that can involve hepatic, neurological, and psychiatric systems, and the condition affects roughly 1 to 9 per 100,000 people. The disease can manifest at various ages, and its severity varies widely between individuals.

The clinical presentation of Wilson disease is multisystemic. Hepatic involvement is prominent, with signs such as cirrhosis, hepatomegaly, hepatic failure, hepatic steatosis, and ascites, often accompanied by abdominal distention, hypoalbuminemia, and hypouricemia. Neurologically, affected individuals exhibit features including parkinsonism with a favorable response to dopaminergic medication, hand tremor, hypokinesia, limb dystonia, rigidity, and a characteristic 'face of the giant panda' sign. Additional features include splenomegaly, limb muscle weakness, anemia, malaise, hyposmia, and decreased nerve conduction velocity. Not all individuals experience every symptom, and severity varies considerably.

Wilson disease is caused by changes in the ATP7B gene, which plays a key role in the regulation and excretion of copper from the body. The condition follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two defective copies of the gene – one from each parent – to develop the disease. This genetic disruption results in excessive copper deposition in various tissues, leading to liver damage and neurological impairment. Genetic counseling is recommended for families to discuss inheritance patterns and implications for future family planning.

Currently, management focuses on supportive care and symptom management, as there are no currently approved FDA treatments specifically for Wilson disease. Treatment is tailored to the individual and typically involves a multidisciplinary team, including hepatologists, neurologists, and other specialists experienced in managing multisystem conditions. Regular surveillance is an essential part of long-term care, helping to identify potential complications at an early stage. Genetic counseling is also recommended so that patients and families can discuss treatment options and management strategies with their healthcare team.

The course of Wilson disease is highly variable and depends on factors such as symptom severity, age at diagnosis, and access to specialized care. With current standards of care, many individuals live into adulthood, though some may experience a progressive course that requires ongoing management. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with a specialist familiar with this condition, and genetic counseling can also provide valuable guidance regarding long-term planning.