Wilson disease is a hereditary condition in which defective cellular copper transport leads to excessive deposition of copper in several organs—most commonly the liver, brain, and cornea.
-It is an autosomal recessive disorder caused by mutations in the ATP7B gene on chromosome 13.
-It usually presents in childhood or young adult life with mean age of onset is between 12 and 23 years of age
Symptoms & Signs
-Wilson disease tends to present as liver disease in adolescents and neuropsychiatric disease in young adults
Hepatic features: acute or chronic liver failure, jaundice, hepatomegaly, cirrhosis, portal hypertension
Neurologic features: basal ganglia dysfunction, tremor, ataxia, incoordination, spasticity, ataxia, migraines, seizures, dysarthria, dysphagia
Psychiatric features: behavioral, personality changes, depression
Miscellaneous: Sunflower cataracts, KF rings, splenomegaly may cause hemolytic anemia and thrombocytopenia.
Kayser-Fleischer ring: Pathognomonic sign of Wilson’s disease; Brownish or gray-green pigmented granular deposits in Descemet membrane in the cornea
-Decreased serum copper concentration despite the presence of copper overload
-Elevated hepatic copper concentration
-Low serum ceruloplasmin (the plasma copper-carrying protein) level
-Elevated urinary copper excretion
-Testing for mutations in ATP7B can be done and is recommended for a definitive diagnosis.
-Liver biopsy with quantitative copper assays: gold standard for diagnosis
-MRI Brain: “face of the giant panda” sign in the midbrain and a “face of the miniature panda” in the pontine tegmentum.
-Treatment of choice: Copper chelation with D-penicillamine or trientine hydrochloride
Drug of choice: Oral Penicillamine; always add pyridoxine to penicillamine
-Oral zinc acetate (interferes with intestinal absorption of copper)
-Administration of trientine and zinc should be separated by at least 1 hr because trientine chalates zic and forms ineffective complexes
-Tetrathiomolybdate for neurologic therapy
-Patients with Wilson disease require lifelong therapy.
-Liver transplantation for advanced liver disease
-The prognosis of untreated Wilson disease is poor, but it is good if effective treatment occurs before liver or brain damage
- What is the most common presentation of Wilson disease? Chronic liver disease
- What is the most common ocular finding of Wilson disease? Kayser–Fleischer rings