Aceruloplasminemia

Aceruloplasminemia causes a build-up of iron in the brain and the organs of the body. Signs and symptoms begin in adulthood. People with aceruloplasminemia develop anemia, diabetes, and eye problems. Over time, difficulty controlling movements may occur. These include tremors, chorea, ataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's. An eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by genetic changes in the CP gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, imaging studies and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms through medications that absorb excess iron.