|
Aceruloplasminemia
|
Extremely rare: incidence < 1/106. Autosomal recessive transmission of a mutation of the CP gene (3q24-q25.1). Neurodegenerative disease due to an iron metabolism abnormalities (see also hereditary hemochromatoses). The oxidase activity of ceruloplasmin is necessary for the action of ferroportin (which ensures the transmembrane passage of iron in the marcophages) and the binding of iron to transferrin. The absence of ceruloplasmin's ferroxidase activity prevents iron oxidation and transport by transferrin, resulting in iron retention in tissues and a drop in sideremia. Unlike other iron metabolism disorders, such as hemochromatosis (see this term), this disease is accompanied by iron overload of brain tissue.
In adulthood, tissue iron overload leads to
- diabetes mellitus
- neurological disorders: ataxia, involuntary movements (blepharospasms, facial dyskinesias, facial and cervical dystonia, tremors and chorea), Parkinson's syndrome, retinal degeneration, depression and cognitive deficits leading to dementia
- liver damage: fibrosis.
- sometimes heart failure.
- microcytic anemia, especially in children.
Diagnosis: absence of serum ceruloplasmin with low cupremia and sideremia, high ferritinemia and hepatic iron overload. Hyperferritinaemia with low or normal transferrin saturation coefficient.
Treatment: oral or intravenous iron chelators. Combined intravenous administration of desferrioxamine and fresh-frozen plasma is effective in reducing hepatic iron overload.
Anesthetic implications:
check hemoglobin level; in adults: check diabetic treatment and liver function.
References :
- Loréal O.
Surcharges en fer génétiques: atypies del’acéruloplasminémie héréditaire.
Bull Acad Natl Med 2019 ; 203 : 432-9
- Vila Cuenca M, Marchi G, Barque A, Esteban-Jurado C, et al.
Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia: atypical anemia as a clue for an early diagnosis.
Int. J. Molec. Sci. 2020; 21: 2374
Updated September 2024