Treatment of Neonatal Hemochromatosis with Exchange Transfusion and Intravenous Immunoglobulin

Objective To determine if immunomodulatory treatment including intravenous immunoglobulin (IVIG) can favorably affect survival in neontatal hemochromatosis (NH) diagnosed postnatally because it can effectively prevent occurrence of NH when applied during gestations at risk. Study design We treated 16 newborn infants with liver failure due to NH with high-dose IVIG, in combination with exchangetransfusionin13(ET/IVIG),andcomparedtheoutcomewith131historicalcontrolstreatedconventionally. Results The severity of liver disease as estimated by prothrombin time was similar in the subjects receiving ET/ IVIG and the historical controls, and the medical therapy was equivalent with the exception of the ET/IVIG therapy. Twelve subjects (75%) had good outcome, defined as survival without liver transplantation, whereas good outcome was achieved in only 17% (23/131) of historical control patients (P < .001). Four subjects died, 2 without and 2 after liver transplant. Survivors were discharged 6to 90 days after receivingET/IVIGtherapy, and those followed formore than 1 year are within normal measures for growth, development, and liver function. Conclusions Immune therapy with ET/IVIG appears to improve the outcome and reduce the need for liver transplantation in patients with NH. (J Pediatr 2009;155:566-71).