As a result of ceruloplasmin deficiency, iron metabolism is impaired, resulting in iron deposition in multiple organs, most notably the brain, retinas, and pancreas. Patients classically present with a triad of neurologic symptoms, retinal degeneration, and type 1 diabetes. Patients also have iron deficiency anemia with microcytosis and elevated ferritin. Diabetes and anemia are often the initial presenting symptoms, followed by neurologic dysfunction. Neurologic symptoms include cognitive impairment, psychiatric symptoms, ataxia, and motor dysfunction, often with movement disorders or parkinsonism. Diabetes and retinal pathology present in the teenage years or early adulthood, while neurologic symptoms typically present in adulthood, often after the age of 40 years. Prognosis is poor, with most patients developing progressive neurologic dysfunction and dementia.
E83.10 – Disorder of iron metabolism, unspecified
124224004 – Deficiency of ferroxidase
Differential Diagnosis & Pitfalls