Neonatal hemochromatosis attributed to gestational alloimmune liver disease treated with intravenous immunoglobulin and exchange transfusion therapy: an evidence-based case report
Abstract
Neonatal hemochromatosis (NH) is a rare fatal liver disease accompanied by hepatic and extrahepatic iron overload.1-3 Gestational alloimmune liver disease (GALD) is a materno-fetal alloimmune disorder and leading cause of NH.2,4,5 This condition allows an interplay between the maternal adaptive immune system and the fetus, resulting in an allograft to the mother. The mother becomes sensitized to an alloantigen expressed by the fetus and forms specific reactive antibodies. Immunoglobulin G (IgG) is transported through the placenta and attacks the fetal hepatocytes, resulting in severe loss of hepatocytes and fetal iron overload.3,6
Liver transplantation has been the only definitive treatment for NH for many years, with a survival rate of ±35%. Conventional therapy containing antioxidants and chelation agents reportedly have very poor success, with survival rate of only 10-20%. A new treatment paradigm involving intravenous immunoglobulin (IVIG) and exchange transfusion (ET) therapy has shown significant success in survival rate in NH, decreasing the need for liver transplantation.3,7,8
Here we present a case of NH caused by GALD and treated successfully with a combination of IVIG therapy and ET. We also aimed to evaluate the efficacy of IVIG and ET therapy for NH.
References
2. Casas-Alba D, Clotet J, Inarejos EJ, Jou C, Fons C, Molera C. Broadening the spectrum of neonatal hemochromatosis. J Matern Fetal Neonatal Med. 2020;33:1024-6. DOI: 10.1080/14767058.2018.1506442
3. Jimenez-Rivera C, Gupta A, Feberova J, de Nanassy JA, Boland MP. Successful treatment of neonatal hemochromatosis as gestational alloimmune liver disease with intravenous immunoglobulin. J Neonatal Perinatal Med. 2014;7:301-4. DOI: 10.3233/NPM-14814026
4. Taylor SA, Kelly S, Alonso EM, Whitington PF. The effects of gestational alloimmune liver disease on fetal and infant morbidity and mortality. J Pediatr. 2018;196:123-8. DOI: 10.1016/j.jpeds.2017.12.054
5. Taylor SA, Whitington PF. Neonatal acute liver failure. Liver Transpl. 2016;22:677-85. DOI: 10.1002/lt.24433
6. Pan X, Kelly S, Melin-Aldana H, Whitington PF. Novel mechanism of fetal hepatocyte injury in congenital alloimmune hepatitis involves the terminal complement cascade. Hepatology. 2010;51:2061-8. DOI: 10.1002/hep.23581
7. Machtei A, Klinger G, Shapiro R, Konen O, Sirota L. Clinical and imaging resolution of neonatal hemochromatosis following treatment. Case Rep Crit Care. 2014;2014:650916. DOI: 10.1155/2014/650916
8. Whitington PF. Gestational alloimmune liver disease and neonatal hemochromatosis. Semin Liver Dis. 2012;32:325-32. DOI: 10.1055/s-0032-1329901
9. University of Oxford. Critical appraisal tools. Centre for Evidence-Based Medicine. Available from: https://www.cebm.ox.ac.uk/resources/ebm-tools/critical-appraisal-tools
10. Simonin AM. Neonatal hemochromatosis. 2017. [Online] [cited 2020 February 3]. Available from: https://emedicine.medscape.com/article/929625-print.
11. Tsunoda T, Inui A, Kawamoto M, Sogo T, Komatsu H, Kasahara M, et al. Neonatal liver failure owing to gestational alloimmune liver. Hepatol Res. 2015;45:601-5. DOI: 10.1111/hepr.12381
12. Heissat S, Collardeau-Frachon S, Baruteau J, Dubruc E, Bouvier R, Fabre M, et al. Neonatal hemochromatosis: diagnostic work-up based on a series of 56 cases of fetal death and neonatal liver failure. J Pediatr. 2015;166:66-73. DOI: 10.1016/j.jpeds.2014.09.030
13. Smyk D, Grammatikopoulos T, Daponte A, Rigopoulou E, Bogdanos DP. Fetomaternal alloimmunity as a cause of liver disease. Auto Immun Highlights. 2011;2:21-8. DOI: 10.1007/s13317-011-0019-7
14. Rand EB, Karpen SJ, Kelly S, Mack CL, Malatack JJ, Sokol RJ, et al. Treatment of neonatal hemochromatosis with exchange transfusion and intravenous immunoglobulin. J Pediatr. 2009;155:567-71. DOI: 10.1016/j.jpeds.2009.04.012
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Accepted 2021-11-01
Published 2021-11-01
