Wilson’s Disease

Wilson’s disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required.

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, who do not develop any symptoms (they are carriers). 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, but cases in much older people have been described. Wilson’s disease occurs in 1 to 4 per 100,000 people. (From Wikipedia)

Image from NEJM (link)

An 18-year-old woman presented with color and temperature changes in her hands, as well as intermittent tremor of the hands since the age of 15 years. She also reported involuntary right arm movements and difficulties with concentration. Physical examination of the eyes revealed bilateral Kayser–Fleischer rings. Neurologic examination revealed dystonia of the right arm, a postural tremor of her arms and legs, mild difficulty eating and speaking, and slow movements. Laboratory tests revealed elevated liver function tests, as well as low serum levels of ceruloplasmin (0.02 g per liter; reference range, 0.2 to 0.5) and copper (4.1 μmol per liter; reference range, 11 to 22); the urinary copper excretion was elevated, at 12.8 μmol per 24 hours (reference range, 0 to 1). Magnetic resonance imaging of the patient’s brain revealed widespread signal change, gliosis, and atrophy in the basal ganglia, thalami, and brain stem.  A diagnosis of Wilson’s disease was made and confirmed on genetic testing. Approximately 5 years after starting iron-chelating treatment, the Kayser–Fleischer rings had resolved almost completely, and there was stabilization in neurologic status and MRI findings. Adapted from NEJM

Kayser–Fleischer rings (KF rings) may be visible in the cornea of the eyes, either directly or on slit lamp examination.  They are due to copper deposition in Descemet’s membrane.  They do not occur in all people with Wilson’s disease.   KF rings occur in approximately 66% of diagnosed cases (more often in those with neurological symptoms rather than with liver problems).

Wilson’s Disease Foundation

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