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Exon 12 Ceruloplasmin Gene New Nonsense Mutation Causing Aceruloplasminemia in an Italian Patient


Affiliations
1 UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AOR Villa Sofia-Cervello, Palermo, Italy
 

Hereditary aceruloplasminemia is a rare disease characterized by iron overload and neurodegeneration. Aceruloplasminemia is due to the absence/deficiency of ceruloplasmin, responsible for iron overload in liver, pancreas and other organs. We report the case of an Italian patient with hyperferritinemia, diabetes and hepatic iron excess, suspected to be affected by aceruloplasminemia. Patient underwent brain magnetic resonance imaging with and without paramagnetic medium contrast, which showed a hypointesity due to iron storage. The presence of a neurological disease and iron storage in the brain has led to assume the suspect of the aceruloplasminemia disease. We confirmed this hypothesis by the identification of a new nonsense mutation in exon 12 ceruloplasmin gene at codon 748, in homozygous status. When the diagnosis of ACP was established, the patient started chelation therapy with 75 mg/Kg/day deferiprone (DFP). Two months of starting therapy with DFP, serum ferritin values decreased to 693 ng/ml; the patient well tolerated the drug, and there have been no adverse events. Although rare, aceruloplasminemia should be considered in the differential diagnosis of unexplained iron overload.

Keywords

Aceruloplasminemia, Brain, Copper, Diabetes, Ferritin.
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  • Exon 12 Ceruloplasmin Gene New Nonsense Mutation Causing Aceruloplasminemia in an Italian Patient

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Authors

Giuseppina Calvaruso
UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AOR Villa Sofia-Cervello, Palermo, Italy
Maria Concetta Renda
UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AOR Villa Sofia-Cervello, Palermo, Italy
Disma Renda
UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AOR Villa Sofia-Cervello, Palermo, Italy
Emanuela Fecarotta
UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AOR Villa Sofia-Cervello, Palermo, Italy
Angela Piazza
UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AOR Villa Sofia-Cervello, Palermo, Italy
Antonino Giangreco
UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AOR Villa Sofia-Cervello, Palermo, Italy
Aurelio Maggio
UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, AOR Villa Sofia-Cervello, Palermo, Italy

Abstract


Hereditary aceruloplasminemia is a rare disease characterized by iron overload and neurodegeneration. Aceruloplasminemia is due to the absence/deficiency of ceruloplasmin, responsible for iron overload in liver, pancreas and other organs. We report the case of an Italian patient with hyperferritinemia, diabetes and hepatic iron excess, suspected to be affected by aceruloplasminemia. Patient underwent brain magnetic resonance imaging with and without paramagnetic medium contrast, which showed a hypointesity due to iron storage. The presence of a neurological disease and iron storage in the brain has led to assume the suspect of the aceruloplasminemia disease. We confirmed this hypothesis by the identification of a new nonsense mutation in exon 12 ceruloplasmin gene at codon 748, in homozygous status. When the diagnosis of ACP was established, the patient started chelation therapy with 75 mg/Kg/day deferiprone (DFP). Two months of starting therapy with DFP, serum ferritin values decreased to 693 ng/ml; the patient well tolerated the drug, and there have been no adverse events. Although rare, aceruloplasminemia should be considered in the differential diagnosis of unexplained iron overload.

Keywords


Aceruloplasminemia, Brain, Copper, Diabetes, Ferritin.