Submitted April 14, 2006
Accepted July 27, 2006
Reversal of cardiac complications by deferiprone and deferoxamine combination therapy in a patient affected by severe type of juvenile hemochromatosis (JH)
Giovanna Fabio*, Francesca Minonzio, Paola Delbini, Annamaria Bianchi, and Maria Domenica Cappellini
Universita degli Studi di Milano, Milano, Italy
* Corresponding author; email: giovanna.fabio{at}unimi.it.
Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder of iron metabolism, genetically heterogeneous. In JH symptomatic organ involvement occurs as early as the second decade of life. Heart failure and/or arrhythmias are the most frequent causes of death. Phlebotomy is the safest, most effective, and most economical therapeutic approach in hemochromatosis patients but is not indicated during the treatment of a severe congestive heart failure with an unstable hemodynamic status. The treatment of iron overload in these prohibitive clinical situations has to be carried out using iron chelators. In patients with thalassemia major, a number of in vitro and in vivo studies have suggested that the simultaneous use of deferoxamine and deferiprone is associated with an additive or even synergistic iron excretion, and that combined therapy could decrease iron overload in patients who had previously been unable to achieve a satisfactory response to deferiprone or deferoxamine alone. We report a case of heart failure in the setting of unrecognized juvenile hemochromatosis successfully treated by the simultaneous administration of Deferoxamine and Deferiprone. The aggressive pharmacological treatment was essential to induce a regression of myocardial dysfunction in a very short time, which was associated with an improvement in clinical status. To our knowledge's, this is the first patient affected by JH treated with combined chelation regimen.
