Wilson’s disease/Hepatolenticular degeneration

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Wilson’s disease or hepatolenticular degeneration (copper storage disease) is a rare autosomal recessive copper metabolism disorder that more commonly affects children and younger adults and has a prevalence of about 1/30 000.

It is caused by mutations in the ATP7B gene which is involved in making the copper-transporting ATPase 2 which eliminates excess copper from the body.

The condition is characterized by progressive basal ganglia degeneration, cirrhosis of the liver and pigmentation of the cornea due to deposition of copper. The overload of copper damages the CNS, cornea, liver and kidneys. Those with Wilson’s disease frequently develop dysarthria, dystonia, incoordination, rigidity and Parkinsonism characteristics with gait abnormalities and a tremor.

Wilson’s disease is present at birth but clinical features do not show up until the copper accumulates sufficiently to cause symptoms and can vary depending on how much each organ has accumulated which can be from about age 6 to up to age 50. Liver related symptoms (such as jaundice, fatigue, loss of appetite and swelling of the abdomen) are more common at presentation in those who are younger whereas neurological symptoms (such as clumsiness, tremors, gait problems, speech problems, confusion, depression and anxiety) are often more common early in those who present at an older age. Misdiagnosis of initial symptoms can be common until a clearer pattern is present and appropriate investigations are done (liver function tests; blood ceruloplasmin and copper levels; and copper levels in the urine).

Treatment:
Early diagnosis is essential as some reversal of symptoms prior to diagnosis is possible.
Need to develop a negative copper balance:
• Reduction of dietary copper intake (avoidance of shellfish, mushrooms, nuts, dried fruit, chocolate, liver, sesame seeds and oil)
• Reduction of copper absorption; zinc prevents absorption
Pencillamine (as a chelating agent) promotes urinary excretion of copper.
Physiotherapy for the movement disorders.
Liver transplantation if liver disease is serious.

Podiatric Implications:
Gait disorders: most common is an ataxic gait; less common are dystonic gait and a Parkinsonian gait.
About a third have a history of falls.
Case reported of dystonic posture of the foot (link).
Osteoporosis and osteopenia are common and increase the risk for fractures and stress fractures.
Lower limb oedema from the liver involvement.

External Link:
Gait in Wilson’s Disease (Podiatry Arena)

Page last updated: Jan 26, 2022 @ 3:52 am

 
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