Causes And Complications Of Wilson's Disease

Wilson's disease, also known as hepatolenticular degeneration and progressive lenticular degeneration, is a genetic condition inherited as a result of an autosomal recessive trait. This progressive condition causes the body to accumulate too much copper in the liver, eyes, brain, and other organs, and treatment is needed to prevent long-term disability and early death. Genetic testing can be performed to diagnose Wilson's disease, and the clinician will also check for signs of the liver and eye damage associated with the disorder. Most patients with Wilson's disease are diagnosed in their teens or early twenties. Treatment generally includes a combination of chelating agents, zinc salts, and tetrathiomolybdate in an attempt to reduce the patient's copper levels to a nontoxic range.

Some of the major causes and potential complications of Wilson's disease are described below.

Autosomal Recessive Genetics

Autosomal recessive genetics refers to the particular inheritance pattern associated with Wilson's disease. The disease is an autosomal recessive disorder, and scientists have discovered it is caused by mutations to the ATP7B gene. Currently, more than three hundred mutations to this gene have been identified. Wilson's disease is inherited when the patient receives two copies of the mutated gene for this condition, one from each of their parents. If the patient only receives one copy of the mutated gene associated with Wilson's disease they will be a carrier of the disease but will not have symptoms. If both parents are carriers of Wilson's disease, there is a twenty-five percent chance their child will be born with the disease and a twenty-five percent chance they will be born without it. There is a fifty percent chance their child will be born as a carrier of the disease. Genetic counselors can help parents who are carriers of Wilson's disease learn more about their chances of passing this condition to their children.

Keep reading to reveal the complications linked to Wilson's disease now.