Wilson’s disease

Wilson’s disease

AR inheritance; Due to mutation of ATB7B gene that leads to impairment of copper excretion into bile and incorporation of copper into ceruloplasmin; copper accumulates in liver and leaks from damaged hepatocytes and deposits in different organs (e.g. cornea, brain and kidney).

Presents with liver dysfunction, parkinsonia like symptoms, neuropsychiatric disturbances and kayser fleischer rings on slit lamp examination; Liver dysfunction manifests as acute hepatitis, fulminant liver failure and cirrhosis.

Diagnosis:-

1. Increased 24 hour urinary copper excretion.

2. Decreased serum ceruloplasmin level.

3. Presence of kayser fleischer rings on slit lamp examination.

4. Deranged LFT (i.e. elevated AST, ALT and bilirubin levels).

5. MRI of the brain shows bilateral basal ganglia changes consistent with copper deposition (i.e. bilateral hyperintensities in the putamen and globus pallidus).

6. Liver biopsy shows abnormal copper accumulation within the liver cells (hepatocytes) by using rhodanine or diamine silver staining.

Management:-

1. Copper chelating agent:- D-penicillamine with Vitamin B6 (1st line therapy); Trientine (2nd line therapy).

2. Agents that inhibit intestinal copper absorption:- Zinc (Wilson’s disease with initial hepatic manifestations), Ammonium tetrathiomolybdate (Wilson’s disease with initial neurologic / psychiatric manifestations).

3. Eliminate copper rich foods.

4. Liver transplantation.