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Wilson disease (Ref. Hari. 18th ed., Pg - 2604)

General Considerations
  1. Autosomal recessive disorder occurs in persons under age 40.
  2. Excessive deposition of copper in the liver and brain.
  3. The genetic defect, localized to chromosome 13, affect a copper-transporting adenosine triphosphatase in the liver and leads to copper accumulation in the liver and oxidative damage of hepatic mitochondria.
    (Basic defect is reduce biliary cu excretion)
Clinical Findings
  1. It presents as liver disease and neuropsychiatric disease in young adults.
  2. The diagnosis should always be considered in any child or young adult with hepatitis, splenomegaly with hypersplenism, Coombs negative hemolytic anemia, portal hypertension, and neurologic or psychiatric abnormalities.
  3. Hepatic involvement may range from elevated liver tests (although the alkaline phosphatase may be low) to cirrhosis and portal hypertension. (Acute hepatitis, fulminant hepatitis, CAH cirrhosis)
  4. The neurologic manifestations are related to basal ganglia dysfunction and include an akinetic-rigid syndrome similar to parkinsonism, pseudosclerosis with tremor, ataxia, and a dystonic syndrome,
    Three main feature:
    1. Dystonia,
    2. incoordination,
    3. Tremor (Ref. Hari. 18th ed., Pg-3188)
  5. Autonomic disturbance may occur which include orthostatic hypotension and sweating abnormalities as well as bowel, bladder, and sexual dysfunction.
  6. Pathognomonic sign of the condition is the brownish or gray-green Kayser Fleischer ring, (Fine pigmented granular deposits in Descemet membrane in the cornea).
  7. The ring is most marked at the superior and inferior poles of the cornea.
  8. Renal calculi, aminoaciduria, renal tubular acidosis, hyperparathyroidism, infertility, and hemolytic anemia may occur in patients with Wilson disease, cholelithiasis.
  9. It does not lead to hepatoma (PGI Dec 08)
  10. Testicular Atrophy is not a feature.

Extra Edge Chorea, Sensory neuropathy & Myopathy are not the features) (Ref. Hari. 18th ed., Pg-3188)


Diagnosis (LQ 2012) (Ref: Robbins, 7th ed., Pg-911), (Ref. Hari. 18th ed., Pg-3188)
  1. Increased urinary copper excretion (LQ 2012)
  2. Low serum ceruloplasmin levels (LQ 2012)
  3. The most confirmatory test is elevated hepatic copper concentration (>250 mcg/g of dry liver). (LQ 2012)
  4. Serum copper levels are of no diagnostic value, since they may be low, normal, or elevated, depending on the stage of evolution of the disease.
Treatment of Wilson's Disease (Ref. Hari. 18th ed., Pg-3189)
  1. Zinc (Drug of choice)
  2. Trientine
  3. Penicillamine
  4. Hepatic transplantation
Extra Edge (Ref. Hari. 18th ed., Pg - 2604)
Liver transplantation is curative with respect to the underlying metabolic defect and restores the normal phenotype with respect to copper homeostasis.
Role of Trientine
  1. Trientine act by chelation or binding of copper, causing its increased urinary excretion. 
  2. Trientine is indicated especially in patients who are intolerant to D-penicillamine or have clinical feature indicating potential intolerant to D-penicillamine. 
  3. Trientine has fewer side effects in comparison to D-penicillamine and worsening of neurological symptoms after beginning of treatment appears much less common than with D-penicillamine. 
Side Effects of Trientine
Most common – anemia (It needs long term treatment for its correction) 
  1. Fever
  2. General feeling of discomfort, illness, or weakness
  3. Joint pain
  4. Skin rash, blisters, hives, or itching
  5. Swollen glands

Note: Signs of anemia are more likely to occur in children, menstruating women, and pregnant women, who usually need more iron than other patients.


Nazer criteria are used for prognosis of a case of Wilson disease. It is based on:
  1. Serum bilirubin
  2. Serum aspartate transferase (AST)
  3. Prolongation of prothrombin time (seconds)

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