NEONATAL HEMOCHROMATOSIS - OUTCOMES OF PHARMACOLOGICAL AND SURGICAL THERAPIES

Background: Neonatal hemochromatosis (NH), also known as perinatal hem ochromatosis or neonatal iron storage disease, is a disorder in fetuse s and newborn infants. A retrospective study was conducted to report m anagement of patients with NH. Methods: Retrospective analysis was con ducted by chart review and by review of histologic material from patie nts with NH. Results: Neonatal hemochromatosis was diagnosed in 14 pat ients between 1985 and 1995. All were considered for orthotopic liver transplantation (OLTX). From 1993 onward, all patients were treated wi th an antioxidant-chelation ''cocktail,'' consisting of deferoxamine, vitamin E, N-acetylcysteine, selenium, and prostaglandin-E1. Of 6 pati ents with NH diagnosed before 1993, 4 underwent OLTX; only 1 is still alive. Of 8 patients with NH diagnosed after 1993 and treated with the cocktail, 7 expired before OLTX. One stabilized on therapy, but havin g never recovered full synthetic liver function, underwent OLTX and is now alive and well. Conclusion: Neonatal hemochromatosis carries a gr im prognosis; however, successful OLTX is curative. The use of an anti oxidant-chelation cocktail did not improve outcome in the patients stu died. Earlier (perinatal) diagnosis may be required for optimal result s. Further study of other interventions, including antenatal diagnosis and earlier institution or modification of cocktail therapy appears w arranted. (C) 1998 Lippincott-Raven Publishers.