Wilson disease

Wilson disease, also known as hepatolenticular degeneration, is a rare genetic disorder that affects the body's ability to remove excess copper. This condition leads to an accumulation of copper in various organs, particularly the liver, brain, and eyes.

Key Features:

• Inherited Disorder: Wilson disease is inherited in an autosomal recessive pattern, meaning that a person must inherit two genes with mutations to develop the condition.
• Copper Accumulation: The disorder prevents the body from removing excess copper, leading to its accumulation in organs such as the liver, brain, and eyes.
• Age of Onset: Symptoms typically appear between the ages of 5 and 40, although they can occur at younger or older ages.

Symptoms:

• Liver Damage: Copper accumulation can cause damage to the liver, leading to symptoms such as jaundice, fatigue, and abdominal pain.
• Brain and Nervous System: Excess copper in the brain can lead to neurological symptoms, including tremors, seizures, and psychiatric problems.
• Eye Problems: Copper accumulation in the eyes can cause Kayser-Fleischer rings (a brownish ring around the iris) and other eye-related issues.

Causes:

• Genetic Mutation: Wilson disease is caused by mutations in the ATP7B gene, which controls the protein transporter responsible for excreting excess copper into bile and out of the body.

The symptoms and effects of Wilson disease can vary widely among individuals, but early diagnosis and treatment are essential to prevent long-term damage and complications. [1][2][3][4][5][6][7]

Wilson disease, also known as hepatolenticular degeneration, is a rare genetic disorder that affects the liver and brain. The signs and symptoms of Wilson disease can vary from person to person, but here are some common ones:

Liver Symptoms

• Jaundice, which appears as yellowing of the eyes and skin [1]
• Fatigue, loss of appetite, nausea, vomiting, weight loss, and fluid in your belly or legs [8]

Neurological Symptoms

• Changes in behavior
• Stiff muscles
• Tremors, shakes, or movements you can't control
• Slow or repeated movements
• Weak muscles
• Trouble with coordination and balance

Other Symptoms

• Yellowing of the skin and eyes due to liver dysfunction (jaundice) [5]
• Swelling in the legs or abdomen due to fluid retention [5]
• Throwing up blood [6]

It's worth noting that some people with Wilson disease may not show any symptoms until they develop chronic liver disease and complications from cirrhosis, which can include fatigue, loss of appetite, and abdominal swelling [2].

The most characteristic sign of Wilson disease is a rusty brown ring around the cornea of the eye called the Kayser-Fleischer ring, but this can only be seen through an ophthalmoscope [9].

Diagnostic Tests for Wilson Disease

Wilson disease, also known as hepatolenticular degeneration, is a genetic disorder that affects the metabolism of copper in the body. The diagnosis of Wilson disease typically involves a combination of clinical evaluation and laboratory tests.

Blood Tests

• Blood tests are commonly used to diagnose Wilson disease. They can help monitor liver function and detect abnormalities in copper and ceruloplasmin levels.
  • Serum copper: This test measures the level of copper in the blood, which is often low in individuals with Wilson disease.
  • Ceruloplasmin: This protein binds copper in the blood, and its level is typically low in individuals with Wilson disease.
• Complete Blood Count (CBC) and Chemistry Panel (CMP): These tests can also be used to diagnose Wilson disease by detecting abnormalities in liver function.

Urine Tests

• 24-hour urine collection test: This test measures the amount of copper excreted in the urine over a 24-hour period, which is often elevated in individuals with Wilson disease.
• Urine copper measurement: This test can also be used to diagnose Wilson disease by measuring the level of copper in the urine.

Liver Biopsy

• A liver biopsy may be performed to establish the diagnosis of Wilson disease. The biopsy involves taking a small sample of liver tissue, which is then analyzed for copper levels.
  • Quantitative copper determination: This test measures the amount of copper in the liver tissue, which can help confirm the diagnosis.

Genetic Testing

• Genetic testing can also be used to diagnose Wilson disease by detecting mutations in the ATP7B gene. This gene provides instructions for making a protein that plays a crucial role in regulating copper levels in the body.
  • Molecular genetic testing: This test involves analyzing DNA samples from individuals suspected of having Wilson disease.

Other Tests

• Ophthalmologic slit-lamp examination: This test can be used to detect Kayser-Fleischer rings, which are deposits of copper in the eyes that are often seen in individuals with Wilson disease.
• 24-hour urine copper measurement and ophthalmological slit-lamp examination: These tests can also be used to diagnose Wilson disease.

References

1. [3] Wilson disease is an autosomal recessive condition caused by a mutation in the Wilson disease protein (ATP7B) gene.
2. [4] Biochemical screening should include serum copper, ceruloplasmin, and basal 24-hour urinary copper testing; screening should also include a slit-lamp examination for Kayser-Fleischer rings.
3. [5] The diagnosis of Wilson disease is made using blood tests, urine tests, genetic testing or liver biopsy.
4. [8] A liver biopsy for quantitative copper determination is essential to establish the diagnosis of Wilson disease.
5. [15] The diagnosis of Wilson disease is established in most instances by a combination of biochemical findings and/or detection of biallelic pathogenic variants in ATP7B identified by molecular genetic testing.

Note: The references provided are based on the information available in the search results and may not be an exhaustive list of all relevant studies or guidelines.

Treatment Options for Wilson Disease

Wilson disease, also known as hepatolenticular degeneration, is a genetic disorder that requires lifelong treatment to manage its symptoms and prevent complications. The mainstay of therapy for Wilson disease involves pharmacologic treatment with chelating agents.

• Chelating Agents: These medications are used to remove excess copper from the body. Some common chelating agents used in the treatment of Wilson disease include:
  • D-penicillamine (Cupramine, Depen)
  • Trientine dihydrochloride
  • Zinc supplements
• Zinc and Penicillamine: These are lifelong medications for patients with Wilson disease. Dosages vary with the severity of the disorder.
• Trientine Tetrahydrochloride: This is a new drug approved by the FDA in May 2022, which can be used to treat Wilson disease.

Other Treatment Options

In addition to chelating agents, other treatment options for Wilson disease include:

• Liver Transplant: In severe cases of Wilson disease, liver transplant may be necessary.
• Copper Reduction: This involves reducing the amount of copper in the body through dietary changes and supplements.
• Zinc Supplements: Zinc can help reduce copper absorption and promote its excretion.

Importance of Lifelong Treatment

It is essential to note that treatment for Wilson disease is a lifelong process. Stopping treatment may cause acute liver failure, making it crucial to continue medication as prescribed by a healthcare professional.

References:

• [5] The mainstay of therapy for Wilson disease is pharmacologic treatment with chelating agents such as D-penicillamine, trientine dihydrochloride.
• [7] Zinc and penicillamine are lifelong medications for patients with Wilson disease. Dosages vary with the severity of the disorder.
• [11] People who have Wilson disease need lifelong treatment. Stopping treatment may cause acute liver failure.
• [3] Treatment is aimed at removing excess accumulated copper and preventing its reaccumulation.

Wilson disease, also known as hepatolenticular degeneration, is a rare genetic disorder that affects the liver and brain. Diagnosing Wilson disease can be challenging due to its similarity in symptoms with other liver diseases.

Similarities with Other Liver Diseases

• Hepatitis: Wilson disease shares similar symptoms with hepatitis, such as jaundice, fatigue, and abdominal pain [1].
• Primary biliary cirrhosis: Wilson disease can also present with symptoms similar to primary biliary cirrhosis, including pruritus, fatigue, and liver enzyme abnormalities [2].

Differential Diagnosis

The differential diagnosis for Wilson disease includes:

• Hepatitis: Inflammation of the liver caused by viral or bacterial infections.
• Primary biliary cirrhosis: A chronic liver disease characterized by progressive destruction of bile ducts within the liver.
• Alpha-1 antitrypsin deficiency: A genetic disorder that can cause liver and lung disease.
• Cystic fibrosis: A genetic disorder that affects the lungs, pancreas, and other organs.

Diagnostic Tests

To diagnose Wilson disease, doctors use a combination of:

• Blood tests: To measure ceruloplasmin levels and detect the presence of copper in the blood [3].
• Urine tests: To detect excess copper in the urine.
• Genetic testing: To identify mutations in the ATP7B gene that cause Wilson disease.
• Liver biopsy: To measure hepatic copper concentration and confirm the diagnosis [4].

Age Range

Wilson disease can affect people of all ages, but most cases are diagnosed between 5 and 35 years old [5]. However, younger and older individuals can also be affected.

References:

[1] Dec 2, 2023 — Diagnosing Wilson's disease can be hard because its symptoms often are like other liver diseases, such as hepatitis. [2] Mar 28, 2023 — The diagnosis of Wilson disease is made by relatively simple tests. The tests can diagnose the disease in both symptomatic patients and people ... [3] Sep 10, 2024 — The diagnosis is established by no individual test but requires the use of some combination of serum ceruloplasmin level, urinary copper ... [4] A diagnosis of Wilson disease is established if the hepatic copper concentration is >250 mcg/g dry weight (4 micromol/g dry weight). ○A ... [5] Most people with Wilson's disease are diagnosed between the ages of 5 and 35. But younger and older people can be affected too.