Issue 4/2023

Topalova-Dimitrova, А., Antonov, К.
Gastroenterology Clinic, UMBAL “St. Ivan Rilski” – Sofia

Wilson‘s disease is a genetic autosomal recessive disorder leading to excessive accumulation of copper in the liver, central nervous system (CNS), corneal descement membrane, and kidneys. It is divided into three main clinical forms: hepatic, neurological and mixed. The age of appearance of the disease varies and is between 5 and 40 years of age, frequency is on average about 1 in 30-40,000 births. Clinical symptoms depend on the extent of the affected organs. In the case of liver involvement, a completely asymptomatic course can be observed in the initial phases of the disease, up to hepatitis, cirrhotic transformation or acute liver failure – the so-called fulminant form. The neuro-psychiatric syndrome is due to the accumulation of copper in the CNS – basal ganglia, cerebellum and thalamus. Manifestations can be associated with Parkinson-like syndrome, bradykinesia, bradylalia, dysgraphia, dystonia, and psychiatric manifestations – with depression, aggression, hallucinations and even psychosis. Characteristic findings are the Kayser-Fleischer ring, which is due to the accumulation of copper in the corneal descement membrane, as seen in other cholestatic liver diseases. Laboratory tests reveal: low ceruloplasmin, high level of free, non-ceruloplasmin-bound copper, hemolytic Coombs-negative anemia, transaminase activity mainly AST predominates over ALT.
It is necessary to study a basal, stimulated 24h. cupriuria and genetic testing. The treatment is aimed at limiting the consumption of copper containing foods, chelators- D- penicillamine, trientine, zinc. Their main function is to reduce the serum level of copper in the organism, by increasing urinary excretion or reducing the absorption of copper from the gastro-intestinal tract. Monitoring of patients and 24 h cupriuria is recommended. In decompensated liver cirrhosis, chronic liver failure, patients should be referred to a liver transplant center.

Address for correspodnce:
Topalova-Dimitrova, A. 
Gastroenterology Clinic, UMBAL St. Ivan Rilski“ – Sofia
15, „Akad. Ivan Geshov“, Blvd.
1431, Sofia