Wilson disease

How is Wilson’s disease treated?

Wilson’s disease is also known medically as hepatolenticular degeneration which is an autosomal recessive genetic disorder. In this disorder copper accumulates in tissues.

Overview
- This manifests as neurological or psychiatric symptoms and liver disease.
- It is treated with medication that reduces copper absorption
- Medication that removes the excess copper from the body also can be used.
- Occasionally a liver transplant is required for this disorder.
- The condition is due to mutations in the Wilson disease protein (ATP7B) gene.
- A single abnormal copy of the gene is present in 1 in 100 people.
- If a child inherits the gene from both parents, the child may develop Wilson’s disease.
- Symptoms usually appear between the ages of 6 and 20 years.
- Wilson’s disease occurs in 1 to 4 per 100,000 people.
- Wilson’s disease is named after Samuel Alexander Kinnier Wilson (1878–1937) who was the British neurologist who first described this condition in 1912.
- This condition is most common in eastern Europeans, Sicilians, and southern Italians.
- A small amount of copper obtained from food is needed to stay healthy, but excess copper is poisonous.
- High copper levels can cause life-threatening organ damage.

In Wilson disease, copper builds up in:
- the liver
- brain
- kidneys
- eyes
- other organs

Treatment of Wilson Disease
- The goal of treatment is to reduce the amount of copper in the tissues.
- This is done by a procedure called chelation.
- This process is where certain medications can bind to copper and help remove it through the kidneys or gut.
- Treatment must be done for lifelong.

The following medications may be used:
- Penicillamine (Cuprimine, Depen) binds to copper and leads to increased release of copper in the urine.
- Trientine (Syprine) binds (chelates) the copper and increases its release through the urine.
- Zinc acetate (Galzin) blocks copper from being absorbed in the intestinal tract.
Vitamin E supplements may also be used.

Risks
- Medications that chelate copper (especially penicillamine) can affect the function of the brain and nervous system (neurological function).
- Other medications under investigation may bind copper without affecting neurological function.
- Lifelong treatment is needed to control Wilson’s disease.
- The disorder may cause fatal effects.
- Loss of liver function and toxic effects of copper on the nervous system are some of the side effects.
- In cases where the disorder is not fatal, symptoms may be disabling.

Dietary Recommendations
A low-copper diet may also be recommended.
Foods to avoid include:
- Chocolate
- Dried fruit
- Liver
- Mushrooms
- Nuts
- Shellfish

Other things to care about:
- You may want to drink distilled water.
- Most tap water flows through copper pipes.
- Avoid using copper cooking utensils.
- Symptoms may be treated with exercise or physical therapy.
- People who are confused or unable to care for themselves may need special protective measures.
- A liver transplant may be considered in cases.
- This is done where the liver is severely damaged by the disease.

Possible Complications:
- Anemia (hemolytic anemia is rare)
- Central nervous system complications
- Cirrhosis
- Death of liver tissues
- Fatty liver
- Hepatitis
- Increased number of bone fractures
- Increased number of infections
- Injury caused by falls
- Jaundice
- Joint contractures or other deformity
- Loss of ability to care for self
- Loss of ability to function at work and home
- Loss of ability to interact with other people
- Loss of muscle mass (muscle atrophy)
- Psychological complications
- Side effects of penicillamine and other medications used to treat the disorder.
- Spleen problems

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How is wilson’s disease diagnosed?

Wilson’s disease is also known medically as hepatolenticular degeneration which is an autosomal recessive genetic disorder. In this disorder copper accumulates in tissues.

Overview
- This manifests as neurological or psychiatric symptoms and liver disease.
- It is treated with medication that reduces copper absorption
- Medication that removes the excess copper from the body also can be used.
- Occasionally a liver transplant is required for this disorder.
- The condition is due to mutations in the Wilson disease protein (ATP7B) gene.
- A single abnormal copy of the gene is present in 1 in 100 people.
- If a child inherits the gene from both parents, the child may develop Wilson’s disease.
- Symptoms usually appear between the ages of 6 and 20 years.
- Wilson’s disease occurs in 1 to 4 per 100,000 people.
- Wilson’s disease is named after Samuel Alexander Kinnier Wilson (1878–1937) who was the British neurologist who first described this condition in 1912.
- This condition is most common in eastern Europeans, Sicilians, and southern Italians.
- A small amount of copper obtained from food is needed to stay healthy, but excess copper is poisonous.
- High copper levels can cause life-threatening organ damage.

In Wilson disease, copper builds up in:
- the liver
- brain
- kidneys
- eyes
- other organs

Who gets Wilson disease?
- Patients who inherit two abnormal copies of the ATP7B gene, one from each parent.
- Who have only one copy of the abnormal gene, do not have symptoms.
- Most people with Wilson disease have no known family history of the disease.
- A person’s chances of having Wilson disease increase if one or both parents have it.
- It equally affects men and women.
- Symptoms usually appear between ages 5 to 35.
- New cases have been reported in people aged 2 to 72 years.

General Symptoms
- Abnormal posture of arms and legs
- Confusion or delirium
- Dementia
- Difficulty moving arms and legs, stiffness
- Difficulty walking (ataxia)
- Emotional or behavioral changes
- Enlargement of the abdomen (abdominal distention)
- Personality changes
- Phobias, distress (neuroses)
- Slow movements
- Slow or decreased movement and expressions of the face
- Speech impairment
- Tremors of the arms or hands
- Uncontrollable movement
- Unpredictable and jerky movement
- Vomiting blood
- Weakness
- Yellow skin (jaundice) or yellow color of the white of the eye (icterus)

Exams and Tests
A slit-lamp eye examination may show:
- Limited eye movement.
- Rusty or brown-colored ring around the iris (Kayser-Fleischer rings).

A physical examination may show signs of damage to the central nervous system. This includes:
- loss of coordination
- loss of muscle control
- muscle tremors
- loss of thinking and IQ
- loss of memory
- confusion (delirium or dementia)

Lab tests may include:
- Complete blood count (CBC)
- Serum ceruloplasmin
- Serum copper
- Serum uric acid
- Urine copper
If there are liver problems, lab tests may find:
- High AST and ALT
- High bilirubin
- High PT and PTT
- Low albumin

Other tests may include:
- 24-hour urine copper test
- Abdominal x-ray
- Abdominal MRI
- CT scan of the abdomen
- Head CT scan
- Head MRI
- Liver biopsy

DNA Testing
- The gene responsible for Wilson’s disease has been found.
- It is called ATP7B.
- DNA testing is available for this gene.
- Testing is complicated as different ethnic groups may have different changes (mutations) in this gene.