WILSON’S DISEASE

(Hepatolenticular Degeneration)

DEFINITION

WILSON’S DISEASE ia a genetically determined disease of copper metabolism resulting in degeneration of corpus striatum, cirrhosis of liver, with a peculiar greenish brown corneal pigmentation. It is an autosomal recessive disorder. The genetic defect is localised to chromosome 13. Over 200 mutations of Wilson’s disease gene have been identified. In this disorder excessive amount of copper is absorbed from small intestine but decreased excretion of the metal from the liver results in deposition of this metal in the brain, liver, kidney and cornea.

CLINICAL FEATURES

Onset is insidious.

Age Young.

Earliest symptom includes choreiform movement of the hand and face together with a characteristic wing beating flapping tremor which is increased on voluntary movement. Akinetic rigid syndrome with Parkinsonian rigidity is also seen. A masked facies is present. No sensory change is seen. Plantar reflex is flexor. Patient may be emotionally unstable and gradually demented….| WILSON’S DISEASE |

Features of cirrhosis of liver are present. A characteristic and diagnostic feature is golden brown pigmentation in the margin of cornea (most marked at the superior and inferior poles of the cornea) at the Descemet’s membrane, which can be seen in daylight but best seen with the help of slit lamp. This in called Kayser-Fleischer ring. The disease may be seen in several members of the family and the prognosis is invariably fatal.

Blood examination shows a low serum copper (less than 90 mcg%) and caeruloplasmin (less than 20 mcg%) level. Urine shows high amount of copper (more than 100 ug) in 24 hours urine and alpha amino acids. Liver biopsy shows elevated copper concentration (more than 100 mg/gm of dry liver). Features of acute or chronic hepatitis or cirrhosis may be present. MRI of brain shows increased amount of copper in the basal ganglia of the brain.

TREATMENT

1. Dimercaprol (BAL) parenterally helps in elimination of copper. The usual dose is 2.5 mg/Kg twice daily for 10-12 days to be repeated after every month.

2. D-penicillamine is the drug of choice in a dose of 1.5-2 gm/day. Pyridoxine 50 mgm/week should be added as Penicillamine is an antimetabolite of pyridoxine. Treatment should be continued indefinitely.

3. Calcium EDTA (Versene) may also be used.

4. Trientene 250-500 mg thrice a day or Zinc acetate 50 mg thrice daily.

5. Diet Legumes, shell fish or organ foods are avoided as they contain high amount of copper.

6. Hepatic transplantation is considered in presence of fulminant hepatitis or cirrhosis of liver.

7. All family members should be sceened.

WILSON’S DISEASE

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