Aceruloplasminemia: A Case Report and Review of a Rare and Misunderstood Disorder of Iron Accumulation

Aceruloplasminemia is a rare disorder of iron accumulation inherited in an autosomal recessive fashion. It commonly presents as chronic microcytic anemia, and then progresses to signs and symptoms that are due to the accumulation of iron in multiple organs such as the brain, liver, pancreas, and thyroid. We present an asymptomatic patient with a history of microcytic anemia, who was evaluated for abnormal liver enzymes, and ultimately diagnosed with aceruloplasminemia.