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Case Reports
. 2002 Jun;36(6):851-6.
doi: 10.1016/s0168-8278(02)00042-9.

Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights

Olivier Loréal  1 , Bruno Turlin, Christelle Pigeon, Annick Moisan, Martine Ropert, Patrick Morice, Yves Gandon, Anne-Marie Jouanolle, Marc Vérin, Robert C Hider, Kunihiro Yoshida, Pierre Brissot
Affiliations
Case Reports

Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights

Olivier Loréal et al. J Hepatol. 2002 Jun.

Abstract

Aceruloplasminemia is an autosomal recessive disease of iron overload associated with mutation(s) in the ceruloplasmin gene. We report here a new case of aceruloplasminemia in a woman who is a compound heterozygote for two new mutations. Besides this novel genotypic profile, this observation provides new insights on: (i) iron metabolism with normal erythroid repartition, in the absence of serum non-transferrin-bound iron and with an increase of 59Fe plasma clearance; (ii) hepatic abnormalities associated with the presence of iron-free foci; (iii) the therapeutic management of the disease, chronic subcutaneous infusion of deferrioxamine being remarkably effective at reducing hepatic iron overload.

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