title: Reversal of cardiac complications by deferiprone and deferoxamine combination therapy in a patient affected by a severe type of juvenile hemochromatosis (JH).
abstract: 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 economic therapeutic approach in hemochromatosis patients but is not indicated during the treatment of severe congestive heart failure with unstable hemodynamic status. The treatment of iron overload in these prohibitive clinical situations has to be carried out using iron chelators. We report a case of heart failure in the setting of unrecognized juvenile hemochromatosis successfully treated by the simultaneous administration of deferoxamine and deferiprone. To our knowledge, this is the first patient affected by JH treated with combined chelation regimen.
authors.affiliation: Department of Internal Medicine, Università degli Studi di Milano and Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy. giovanna.fabio@unimi.it
authors.forename: Giovanna
authors.initials: G
authors.lastname: Fabio
authors.forename: Francesca
authors.initials: F
authors.lastname: Minonzio
authors.forename: Paola
authors.initials: P
authors.lastname: Delbini
authors.forename: Annamaria
authors.initials: A
authors.lastname: Bianchi
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D023181:Antimicrobial Cationic Peptides / Q000235:genetics; D001281:Atrial Fibrillation / Q000209:etiology; D015913:Chelation Therapy / Q000379:methods*; D004252:DNA Mutational Analysis; D000077543:Deferiprone; D003676:Deferoxamine / Q000008:administration & dosage / Q000627:therapeutic use*; D004359:Drug Therapy, Combination; D006333:Heart Failure / Q000188:drug therapy / Q000209:etiology*; D006432:Hemochromatosis / Q000150:complications / Q000188:drug therapy*; D064451:Hepcidins; D006801:Humans; D007248:Infertility, Male / Q000209:etiology; D007502:Iron Chelating Agents / Q000008:administration & dosage / Q000627:therapeutic use*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D011728:Pyridones / Q000008:administration & dosage / Q000627:therapeutic use*; D012074:Remission Induction
chemical_list: D023181:Antimicrobial Cationic Peptides; D064451:Hepcidins; D007502:Iron Chelating Agents; D011728:Pyridones; D000077543:Deferiprone; D003676:Deferoxamine