Albertine Donker

Chapter 3 102 combination with mental dysfunction. A mild normo- to microcytic anemia with low serum iron and elevated serum ferritin is a constant feature in ACP. 40 However, in none of the described patients, was anemia the presenting symptom. Disease onset typically occurs in the fourth to fifth decade of life with neurodegenerative symptoms. Most patients die in the sixth decade due to neurological complications. 39 Despite the hepatic iron overload, ACP has not been described to be associated with liver disease. Absent or very low serum ceruloplasmin in combination with low serum copper and iron, high serum ferritin and increased hepatic iron concentration is indicative of ACP. The diagnosis is supported by characteristic findings on MRI that are compatible with iron accumulation in liver, pancreas and brain. Homozygous or compound heterozygous CP defects confirm the diagnosis of ACP. Treatment Case series describe normalization of serum ferritin and decrease of hepatic iron overload after treatment with iron chelation. 39 In six cases neurological improvement, 39-42 and in two other cases reduction of insulin demand was described on treatment with iron chelators. 43 Oral administration of zinc sulphate in a symptomatic heterozygous ACP patient has been reported but effect on neurological symptoms remains unclear. 41,44 Three homozygous ACP patients were treated with fresh frozen plasma; their outcome was not reported. 45-47 The anemia in ACP is mild and does not need any intervention.