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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.

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