Wilson disease is a genetic disorder in which excess copper builds up in the body. It occurs in about 1 in 30,000 people. Symptoms usually begin between the ages of 5 and 35 years. It is caused by a mutation in the ATP7B gene. This translated to the Wilson protein which transports excess copper into bile. The condition is autosomal recessive. Copper accumulation leads to injury in many different tissues, mostly the liver and brain. Approximately 45% present with liver disease, 35% with neurological signs and symptoms and 10% with psychiatric symptoms. Other presentations can be hemolytic anemia, jaundice and cardiomyopathy.
Prominent clinical features of Wilson disease
-Increases of serum transaminases
-Progressive hepatic cirrhosis
-Chronic active hepatitis
-Rapidly progressive hepatic failure
-Parkinsonian features
-Personality changes with mood alteration
-Affective disorder, schizophrenia, or psychosis
-Kayser–Fleischer rings
-Coombs-negative hemolytic anemia
Less common clinical features -Cardiomyopathy and dysrhythmias -Osteomalacia and arthritis -Amenorrhea and delayed puberty -Hypothyroidism and hypoparathyroidism Laboratory findings -Serum ceruloplasmin concentration 20 mg/dL -Serum copper 100 g/dLb -Urinary copper content 100 g/24 hd Liver biopsy Fatty infiltration and glycogen deposition, micronodular cirrhosis and lymphocytic infiltration Treatment options Chelation therapy -D-Penicillamine: 1–2 g/d PO -Trientine: 1–2 g/d PO -Tetrathiomolybdate: 120 mg/d PO Dietary therapy -Avoidance of copper-rich foods (liver, shellfish, chocolate, nuts, and legumes) -Avoidance of drinking water with copper 1 ppm (0.1 g/L) -Zinc acetate: 50 mg PO Hepatic transplantation
EASL guidelines:
References:
Journal of Hepatology, 71 (2019) 222-224. doi:10.1016/j.jhep.2019.02.002
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