Definition:

It is an autosomal recessive disorder which is caused by mutations in ATP7B gene on chromosome 13 and involve liver, brain, eyes, kidneys and skeleton.

Clinical features of Wilson’s diseases:

I) Hepatic features-

i. Acute hepatitis
ii. Acute fulminant hepatic failure
iii. Recurrent hepatitis (occasional)
iv. Portal hypertension
v. Chronic hepatitis including cirrhosis of liver
vi. Liver failure.

II) Neurologic features-

i. Unusual clumsiness for age
ii. Tremor
iii.Incoordination
iv. Dystonia
v. Dysarthria
vi. Dysphagia
vii. Choreoathetosis
viii. Migraine-type headaches
ix. Parkinsonism
x. Memory loss
xi. Seizures
xii. Autonomic disturbances like orthostatic hypotension, sweating abnormalities, bowel disorder, bladder disorder and sexual dysfunction

III) Eye feature-

Kayser-Fleischer rings (characterized by greenish-brown discoloration of the corneal margins appearing first at the upper periphery) due to copper deposits in the outer rim of the corneas.

IV) Psychiatric features-

i. Behavioral disturbances
ii. Depression
iii. Loss of emotional control
iv. Hyperactivity
v. Loss of sexual inhibition.

V) Other features-

i. Amenorrhea
ii. Spontaneous abortions
iii. Osteoarthritis (particularly of the knee joints)
iv. Cholelithiasis
v. Nephrolithiasis.

Investigations:

1. Serum ceruloplasmin – Low
2. Free serum copper concentration – High
3. Urine copper excretion – High (greater than 0.6 micromol/24 hrs)
4. Hepatic copper content – Very high
5. 24-hour urinary copper excretion (while taking D-penicillamine) – more than 25 micromol/24 hrs(confirmatory test of wilson’s disease)
6. Haplotype analysis – 2 Matches.

Treatment:

1. Penicillamine – 1.5 g/day (1-4 g/day)
2. Pyridoxine – 25 mg/d along with Penicillamine
3. Trientine dihydrochloride (1.2-2.4 g/day) and zinc (50 mg 8-hourly) – if toxic effects of Penicillamine occur
4. Liver transplantation in case of fulminant liver failure or advanced cirrhosis with liver failure.