Wilson's Disease and Medical Malpractice

Wilson's disease is a rare autosomal recessive disorder, where copper accumulates in the body’s tissues and organs, specifically the liver, brain, and eyes. The body acquires and stores too much copper. Copper deposition causes damage, death, and scarring of tissues leading to dysfunction of organs. 

The incidence of Wilson’s disease is 1:300,000. If both parents possess an abnormal gene for Wilson’s disease, there is a 25% chance their child will have the disorder. The gene responsible for Wilson's disease is ATP7B. DNA testing is available for this gene; however, testing is complicated because different ethnic groups may have different mutations in this gene.

It is commonly seen in eastern Europeans, Sicilians, and southern Italians. Symptoms begin to present at age 4. Symptoms include abnormal posture of arms and legs, confusion or delirium, dementia, difficulty moving arms/legs, difficulty walking, emotional or behavioral changes, abdominal distention, personality changes, speech impairment, tremors of arms or hands, uncontrollable movements, hemoptysis, jaundice, etc.

Specific signs and tests are used to verify the diagnosis of Wilson’s disease. A slit lamp examination may demonstrate limited eye movement and Kayser-Fleischer rings, brown-colored rings around the iris. Physical examination may illustrate injury to the central nervous system such as loss of muscle control, coordination, memory, thinking and IQ. Other neurological signs may include muscle tremors and confusion.

In addition, the presence of liver or spleen disorders may be an indication for Wilson’s disease. Lab tests that assist in the evaluation for Wilson’s disease include: CBC, serum ceruloplasmin, serum copper, serum uric acid, and urine copper. If the patient possesses liver problems, one would expect to see the following picture: high liver enzymes (AST and ALT), high bilirubin, high PT and PTT, and low albumin. There are a myriad of other tests such as 24-hour urine copper test as well as abdominal and neurological imaging that can provide further evidence for or against the diagnosis.

Lifelong treatment is required to control Wilson's disease because it may cause fatal effects, such as loss of liver function and damage to the nervous system. In patients where the disorder is not fatal, symptoms may be disabling. The aim of treatment is to decrease the amount of copper in the body causing toxic effects.  Thus, medications known as chelators, which bind copper and remove it via the kidneys and guts, are utilized to treat this disorder. Unfortunately, certain medications that chelate copper, like penicillamine, can sometimes affect neurological function while others may not interfere with neurological function.

Also, a low-copper diet is recommended so individuals should avoid the following foods: chocolate, dried fruit, liver, mushrooms, nuts, and shellfish.  Individuals may want to drink distilled water because the majority of tap water flows through copper pipes. A liver transplant may be necessary in cases where the liver is severely damaged. In addition, people with severe neurological dysfunction may need special protective measures.

If left untreated, a variety of complications can result from Wilson’s disease including anemia, CNS damage, cirrhosis, liver necrosis, fatty liver, hepatitis, increased number of bone fractures and infections, jaundice, muscle atrophy, loss of ability to care for self and function independently, along with a number of other things. However, liver failure and injury to the central nervous system are the most common and dangerous effects. Wilson's disease is fatal if it goes undiagnosed and untreated.