Discussion: NH, which is not the same as Hereditary Hemochromatosis is a rare syndrome in which severe liver disease of fetal or perinatal onset is associated with deposition of stainable iron in extrahepatic sites, the distribution of which mimics that observed in hepatic iron disease. Historically, NH has been associated with high mortality or need for liver transplant, although some infants recovered with supportive care consisting of a combination of antioxidants, cytoprotective agents, chelation, nutrition and replacement of hematologic factors. Antioxidant and chelation therapies are not considered standard of care in the current era. Current literature supports IVIG and exchange transfusion as standard treatment. Breastmilk must not be given in order to avoid transfer of maternal antibodies. The risk of recurrence in subsequent offspring of a mother after the index case is >80%; attempts to prevent recurrent severe NH by gestational treatment using IVIG has been very effective.
Abstract Number: 820
Category: Clinical Vignettes
Case Presentation: A 2 day old Hispanic girl was admitted to the hospital for total bilirubin of 9.68 mg/dl with elevated direct bilirubin at 1.98 mg/dl, 21% of total. She was born full term, normal spontaneous vaginal delivery; the mother had an uneventful pregnancy. The mother was blood type A+, the child B + with negative antibodies. The next day her total bilirubin was 9.47mg/dl with direct bilirubin at 20%, The patient was acting normal, afebrile with good oral intake and was not bleeding. Labs showed mildly elevated transaminase values however Coagulation studies showed PT 40, INR 4.2, PTT 87; coagulation profile showed her to be in disseminated intravascular coagulopathy (DIC), with factors II, VII, IX, and X all less than 10%.An infectious disease workup, including blood culture, Toxoplasma, Herpes simplex virus, Cytomegalovirus, HIV, and Adenovirus were all negative. She had mildly elevated ANA with Ferritin level >2000 (with normal iron levels). MRI of the liver, spleen and pancreas showed twice normal iron deposition. A punch biopsy of the oral mucosa demonstrated iron deposition in minor salivary gland epithelial cells. At this point a diagnosis of gestational alloimmune liver disease (Neonatal Hemochromatosis, NH) was made. Based on published recommendations from Northwestern University, she received two doses of IVIG. She also received multivitamins and formula (no breastmilk). By the next day, her INR started down trending, liver enzymes and coagulation profile started normalizing. She continued her gradual improvement and was discharged home on day of life 26 with close outpatient follow up.