Investigated and available therapeutic options for treating aceruloplasminemia

Abstract

Introduction: Ceruloplasmin regulates the efficiency of iron efflux from the cells, functioning as a ferroxidase, and stabilizes the cell surface iron transporter ferroportin. Aceruloplasminemia is an autosomal recessive disorder associated with iron accumulation in the brain and viscera caused by loss-of-function mutations encoding the ceruloplasmin gene. The clinical manifestations of retinal degeneration, diabetes mellitus, iron-refractory anemia and neurologic disease correspond to the regions of iron deposition.Areas covered: Oxidative stress and increased lipid peroxidation are closely related to the increased iron levels in the brain and visceral organs. Iron-chelating agents decrease brain and liver iron stores, improve the diabetic mellitus condition and prevent the progression of neurologic symptoms in symptomatic individuals. However, there is no universally accepted regimen.Expert opinion: Zinc concentrations in these patients were decreased in the brain and visceral organs, and zinc showed opposing distributions to those for iron. Because zinc has antioxidant activity, treatment with an iron chelator accompanied by zinc may be useful in patients with aceruloplasminemia to diminish iron accumulation in the brain and body and to prevent or ameliorate systemic and neurologic symptoms.