What is the progression of Wilson's disease? (2024)

What is the progression of Wilson's disease?

Wilson's disease typically begins with a presymptomatic period, during which copper accumulation in the liver causes subclinical hepatitis, and progresses to liver cirrhosis and development of neuropsychiatric symptoms. The type of hepatic and neurological symptoms can be highly variable.

What is the pathway of Wilson's disease?

Around 50%-75% of intestinal copper is absorbed and then transported to the hepatocytes. This pathway is intact in Wilson disease. After copper reaches the hepatocyte, it is incorporated into copper-containing enzymes and copper-binding proteins (CBPs), including ceruloplasmin, a serum ferroxidase.

What is the prognosis for Wilson's disease?

If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, however, WD can cause brain damage, liver failure, and death.

Is Wilson's disease terminal?

Wilson disease is fatal without medical treatment. There is no cure, but the condition can be managed. Treatment options include medications, chelation therapy and avoiding foods high in copper.

What is life like with Wilson's disease?

Patients may experience abnormal tests, liver failure, or severe neurologic or psychiatric disorders. With early detection and treatment, however, neurological and psychiatric problems can be prevented, and people with Wilson disease can live full and healthy lives.

How serious is Wilson disease?

Wilson disease is a rare genetic condition that occurs when your body accumulates too much copper, especially in the liver and brain. Your body needs a small amount of copper from food to stay healthy, but without treatment, Wilson disease can lead to high copper levels that cause life-threatening organ damage.

What are the psychiatric symptoms of Wilson's disease?

Psychiatric manifestations may precede neurological signs in the early stages of WD. [³] Incongruous behavior, irritability, depression, and cognitive impairment were the most common psychiatric symptoms among patients with WD. [⁵] Cognitive impairment is generally mild, occurring in less than 25% of patients.

Can you have mild Wilson's disease?

The signs of Wilson's disease can be mild and may come and go over months or years, or they may be ongoing.

Does Wilson's disease qualify for disability?

If Wilson's disease is preventing you from working for at least 12 months, you may qualify for Social Security disability benefits (whether SSDI or SSI).

How does Wilson's disease affect the brain?

Brain or neurological symptoms include tremors, muscle stiffness, trouble speaking, personality changes, anxiety, and auditory or visual hallucinations. Wilson disease is an autosomal recessive condition caused by a mutation in the Wilson disease protein (ATP7B) gene.

What causes death in Wilson's disease?

Death typically occurs due to liver, kidney, or hematologic complications related to Wilson disease. Patients with cirrhosis who develop portal hypertension and varices in the esophagus and stomach are prone to bleeding, which increases the risk of death.

What is the most common cause of death in Wilson's disease?

If Wilson's disease isn't treated, sometimes it can lead to death. Serious complications include: Scarring of the liver, also known as cirrhosis. As liver cells try to repair damage due to high copper levels, scar tissue forms in the liver.

What are the behavioral changes in Wilson's disease?

Symptoms such as inappropriate behavior and irritability are more often associated with bulbar and dystonic features rather than tremors. Personality changes in Wilson's disease include bizarre behavior, impulsivity, occasionally extending to criminal behavior, and disinhibition.

What are the long term effects of Wilson's disease?

Wilson's disease typically begins with a presymptomatic period, during which copper accumulation in the liver causes subclinical hepatitis, and progresses to liver cirrhosis and development of neuropsychiatric symptoms. The type of hepatic and neurological symptoms can be highly variable.

What foods should you avoid if you have Wilson's disease?

People with Wilson disease must follow a diet that is low in copper. Foods to avoid include beef liver, cashews, black-eyed peas, vegetable juice, shellfish, mushrooms, and cocoa. People with this disease should not take any vitamin or mineral supplement that contains copper.

What are some interesting facts about Wilson's disease?

Wilson disease is a rare inherited disorder. If both parents carry a defective gene for Wilson disease, there is a 25% chance in each pregnancy that the child will have the disorder. Wilson disease causes the body to take in and keep too much copper. The copper deposits in the liver, brain, kidneys, and eyes.

What mimics Wilson's disease?

The recently described manganese storage disease presents another rare metabolic disorder with symptoms similar to Wilson's disease.

What is the early onset of Wilson's disease?

The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.

How can you tell if someone has Wilson's disease?

What tests do doctors use to diagnose Wilson disease? Doctors typically use blood tests and a 24-hour urine collection test to diagnose Wilson disease. Doctors may also use a liver biopsy and imaging tests.

When should you suspect Wilson's disease?

Wilson disease should be suspected in people < 40 with any of the following: An unexplained hepatic, neurologic, or psychiatric disorder. An unexplained persistent elevation in hepatic transaminases. A sibling, parent, or cousin with Wilson disease.

What is the gold standard test for Wilson's disease?

These two diagnostic tests along with KF ring are adequate to diagnose Wilson's disease. However, the gold standard for diagnosis remains liver biopsy to determine liver copper levels.

Is there a cure coming soon for Wilson's disease?

There is no cure for Wilson disease. Lifelong treatment is necessary and could include: Taking copper-chelating medications, which help your body's organs and tissues get rid of excess copper. Reducing the amount of copper you get through food.

Does Wilson's disease cause mental illness?

Across studies, up to one-fifth of patients with Wilson's disease (WD) present initially with psychiatric features in isolation, one-third present with predominating psychiatric features and two-thirds of patients with WD eventually develop psychiatric features.

Does Wilson's disease cause anxiety?

Up to twenty percent of patients will have seen a psychiatrist before getting a diagnosis of Wilson disease. Most often, these patients will have mood issues such as depression and bipolar disorders, including anxiety, Obsessive-Compulsive Disorder (OCD), and Attention Deficit Hyperactivity Disorder (ADHD).

Can you drink alcohol with Wilson's disease?

It is a good idea to reduce your consumption to below recommended levels (no more than 14 units a week) or abstain from drinking if you can. Drinking alcohol is likely to speed up and worsen the impact of Wilson's disease. If you have cirrhosis it is sensible to avoid alcohol completely.