Neonatal Hemochromatosis Treatment & Management
- Author: Jatinder Bhatia, MBBS, FAAP; Chief Editor: Carmen Cuffari, MD more...
If an infant with neonatal hemochromatosis is born outside of a tertiary care setting, transfer the patient to a level IV neonatal intensive care unit (NICU) or to a center that regularly performs neonatal liver transplantation.
At present, liver transplantation is the only known curative treatment. Studies have shown that iron does not redeposit after transplantation.
Go to Hemochromatosis and Dermatologic Manifestations of Hemochromatosis for complete information on these topics.
In a study by Whitington and Hibbard, 15 women whose most recent pregnancy ended in documented neonatal hemochromatosis were treated with intravenous immunoglobulin 1 g/kg/wk from 18 weeks’ gestation until end of gestation; 12 infants had evidence of neonatal hemochromatosis, but all survived with or without medical treatment and were healthy at the time of the report. However, this is a small study, and further trials are needed.
Current care is basically supportive. No definitive or curative care has been identified as of this publication; however, experience with treatment is very limited.
Infants with neonatal hemochromatosis have been treated with a combination of antioxidants, cryoprotective agents, and chelation. The few infants who received this combination therapy had normalization of liver function, improved clotting factors, and decrease in serum ammonia levels.
The first order of treatment in infants with neonatal hemochromatosis is attention to airway, breathing, and circulation (the ABCs) because the infants are usually born very ill or deteriorate shortly thereafter. Therefore, intubate infants with neonatal hemochromatosis shortly after birth to establish a patent airway. In addition, if any cardiovascular support is needed, such as volume replacement or inotropic therapy, add it accordingly.
Intubation is usually warranted because infants with neonatal hemochromatosis are born prematurely and possibly require surfactant to improve their lung function. These infants can also have pneumonia and, in severe cases, pleural effusions.
These infants usually require some sort of pressor support because of poor contractility and the deposition of iron in the myocardium. Also, these infants are born with heart failure and require much cardiac support.
General support care of nutrition and replacement of hematologic factors, such as fresh-frozen plasma (FFP), platelets, cryoprecipitate, and packed red blood cells (PRBCs), are necessary.
Consult a pediatric gastroenterologist and pediatric surgeon if transplantation may be needed.
Because of the rarity of this disease process, a pediatric gastroenterologist can provide recent updates in research and experimental therapy.
Consult a pediatric surgeon for possible transplantation and need for possible biopsy for accurate diagnosis.
Social services are offered mainly for family and financial support.
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