Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights

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


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ceruloplasmin / genetics*
  • Ceruloplasmin / metabolism*
  • Deferoxamine / administration & dosage
  • Female
  • Humans
  • Iron Chelating Agents / administration & dosage
  • Iron Overload / drug therapy
  • Iron Overload / genetics*
  • Iron Overload / physiopathology*
  • Liver / metabolism
  • Liver / pathology
  • Magnetic Resonance Imaging
  • Middle Aged


  • Iron Chelating Agents
  • Ceruloplasmin
  • Deferoxamine