What are the symptoms of Wilson disease?
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.
Symptoms of the Wilson’s disease
- Wilson disease first attacks the liver.
- Then it attacks the central nervous system, or both the liver and central nervous system.
- A buildup of copper in the liver may cause ongoing liver disease.
- Acute liver failure occurs.
- Most patients develop signs and symptoms that accompany chronic liver disease.
These include :
- swelling of the liver or spleen.
- jaundice, or yellowing of the skin and whites of the eyes.
- fluid buildup in the legs or abdomen.
- a tendency to bruise easily.
- fatigue.
A buildup of copper in the central nervous system may result in neurologic symptoms.
These include:
- Problems with speech, swallowing, or physical coordination.
- Tremors or uncontrolled movements.
- Muscle stiffness.
- Behavioral changes.
Other signs and symptoms of Wilson disease include:
- Anemia.
- Low platelet or white blood cell count.
- Slower blood clotting, measured by a blood test.
- High levels of amino acids, protein, uric acid, and carbohydrates in urine.
- Premature osteoporosis and arthritis.
Kayser-Fleischer Rings
- Kayser-Fleischer rings result from a buildup of copper in the eyes.
- These are the most unique sign of Wilson disease.
- They appear in each eye as a rusty-brown ring around the edge of the iris and in the rim of the cornea.
- The iris is the colored part of the eye surrounding the pupil.
- The cornea is the transparent outer membrane that covers the eye.
Other 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.
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Categories: Disease, Disorder, health, Healthy, Medical, Nerves, Relief, Risk factors, Symptoms, Tissues, Wilson disease Tags: abnormal, Accumulation, Body, causes, Copper, Damage, Degeneration, Diet, Disease, Disorder, Eyes, Food, Genes, Genetic, Liver, Medical, Medically, Nerves, nervous system, Neurological, Organ, Symptoms, Tissues, Wilson disease
What are causes of Wilson’s disease?
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.
What causes Wilson disease?
- Wilson disease is caused by a buildup of copper in the body.
- Normally, copper from the diet is filtered out by the liver.
- It is then released into bile.
- This then flows out of the body through the gastrointestinal tract.
- People who have Wilson disease cannot release copper from the liver at a normal rate.
- This is due to a mutation of the ATP7B gene.
- When the copper storage capacity of the liver is exceeded, copper is released into the bloodstream.
- It travels to other organs—including the brain, kidneys, and eyes.
The deposits of copper causes:
- tissue damage.
- death of the tissues.
- scarring of the tissue.