Wilson’s disease

Published on 05/05/2015 by admin

Filed under Internal Medicine

Last modified 05/05/2015

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118 Wilson’s disease

Instruction

Look at this patient’s eyes.

Salient features

History

• History of consanguinity

• In young adult or child: hepatitis, haemolytic anaemia, portal hypertension or neuropsychiatric abnormalities

• In adolescents: presents as liver disease

• In adults <40 years of age: consider chronic or fulminant hepatitis.

Examination

• Greenish yellow to golden-brown pigmentation at the limbus of the cornea (Kayser–Fleischer ring)

• Look for:

• jaundice (look at the sclera)
• sunflower cataracts
• hepatomegaly
• signs of liver cell failure.

• Look for neurological manifestations: tremor, chorea, mask-like facies with a vacuous smile.

Diagnosis

This patient has a classical Kayser–Fleischer ring with jaundice and hepatomegaly (lesions) caused by Wilson’s disease (aetiology) and does not have a hepatic flap (functional status).

Advanced-level questions

What is Kayser–Fleischer ring?

Deposition of copper in Descemet’s membrane (Fig. 118.1). The ring is most marked at the superior and inferior poles of the cornea. It is often apparent only on slit-lamp examination. It may be absent in patients with only hepatic manifestations, but it is present in those with neuropsychiatric disease.

image

Fig. 118.1 Kayser–Fleischer ring.

(With permission from Goldman L, Ausiello DA 2007.)

Is Kayser–Fleischer ring pathognomonic of Wilson’s disease?

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