Wilson Disease
Protocols
Clinical Features:
🎴Liver
- Acute hepatitis e.g. jaundice
- Fulminant hepatic failure
- Chronic liver disease, Haematemesis (PH), ascites
🎴Nervous system
- Extrapyramidal manifestations e.g. tremor, dysarthria, drooling, dystonia, choreoathetosis
- Psychiatric manisfestations e.g. dementia
- Deterioration of handwriting, school performance
- Speech disturbances
🎴Eyes
- KF (Kayser-Fleischer) ring (Greenish brown ring due to Copper deposition in descemet’s membrane of sclero-corneal junction (limbus)
- Sunflower cataract
🎴Others
- Haemolytic anaemia Rickets
- Renal tubular acidosis Arthritis
- Cardiomyopathy
- Endocrinopathy e.g. Hypoparathyroidsm
- Infertility/Recurrent miscarriages
Investigations:
- 1)Haemoglobin- Decreased
- 2) S. ceruloplasmin - less 20 mg/dl (Normal 40 mg/dl)
- 3) 24 hours urinary Copper = > 100 μg/day(Normal < 40 μg/day)
- 4) SGPT, S. Bilirubin
- 5) Prothrombin time-May be raised
- 6) MRI of brain Reveals change in basal ganglia
- 7) D-penicillamine challenge test
- Procedure: Patient will take Penicillamine (500 mg) 12 hourly for 24 hours and during this period all urine has to be collected in a jar for Copper estimation
- If urinary Copper exceeds > 1600 μg in 24 hours then it is suggestive of Wilson disease (done only when 24 hours urinary Cu is less 100 μg/day)
- 8) Liver biopsy to measure hepatic copper content>250 μg/gm of dry weight of liver is confirmatory (normal Less 10 μg/gm dry weight)
Rx:
- Copper chelators
1. D-penicillamine (10-30 mg/kg/day)
1+0+1.........(Before meal).....চলবে/continue
2. Trientine hydrochloride 20 mg/kg/day
3. Tetrathiomolybdate, is given as an alternate therapy
Other supports:
1.Zinc acetate: 25 mg, orally, 3 times a day may reduce copper absorption.
2.Zinc should not be given at the same time as copper chelators
3. Pyridoxine: 25 mg/day is given daily during therapy with Penicillamine to prevent optic neuritis
[Both Copper chelators and Zinc will be continued for life
Advice:
- Diet
- Allow diet deficient in copper e.g. milk & milk products, green leafy vegetables, sugar, cold drinks, lemon juice, tomato juice
- Avoid diet rich in copper e.g.meat, chicken, honey, jam, chillie, garam masala, pulses,wheat-flour, chocolates, dried nuts, mushroom
Specific: Liver transplantation
Prognosis
Poor for untreated Wilson disease.