Coincidence of 2 severe chronic diseases: presymptomatic diagnosis of Wilson disease in a boy with severe haemophilia A.

Wilson disease is an autosomal-recessive disorder of copper metabolism caused by mutations or deletions in the gene ATP7B. ATP7B encodes a metal-transporting P-type ATPase which functions as part of the transmembrane copper transporter mainly in the liver. In Wilson disease hepatocellular excretion of copper into bile is decreased and incorporation of copper into ceruloplasmin is reduced. Therefore, copper accumulates in the liver and unbound copper is released into the bloodstream (Roberts EA et al., Hepatology 2003; 37: 1475–1492). Consequently, toxic copper is deposited into various organs, and predominantly affects the liver, brain, kidney and cornea. Wilson disease thus can lead to hepatic and neuropsychiatric dysfunction and – if untreated – finally would end up in the patient’s early death.