Disparate clinical findings in monochorionic twins with neonatal hemochromatosis

Midorikawa, Hiroko; Mizuochi, Tatsuki; Okada, Jiro; Hisano, Tadashi

doi:10.1111/ped.13421

Cited by 4 publications

(5 citation statements)

References 5 publications

(20 reference statements)

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“…Interestingly, the twin A of our case presented minor liver dysfunction, echoing the discordant presentations in reported GALD twins (12)(13)(14). Similar to different hemolytic severity between twins born to rhesus-sensitized mothers, attributed to alloantigen polymorphism or dissimilar antigen presentation by HLA variants (15), a parallel mechanism may apply to GALD-NH.…”

Section: Discussionsupporting

confidence: 68%

Efficacy of Intravenous Immunoglobulin/Exchange Transfusion Therapy on Gestational Alloimmune Liver Disease

et al. 2021

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Background: Gestational alloimmune liver disease (GALD) is a rare but critical cause of neonatal liver failure. After discovering the maternal–fetal alloimmune mechanism, intravenous immunoglobulin (IVIG) with or without exchange transfusion (ET) has gradually replaced antioxidant cocktails as the first-line therapy. Whether such therapy changes the outcome of neonates with GALD is yet to be defined.Method: We reported a pair of twins with discordant presentations, mild and self-limited in the older, whereas liver failure in the younger, who was successfully rescued by ET and IVIG. To investigate the outcome after therapeutic alteration, 39 cases between 2005 and 2020 from literature research were collected.Results: Half of the collected cases (47.1%) were preterm. Common presentations were ascites, jaundice, respiratory distress, hepatomegaly, and edema. Leading laboratory abnormalities were coagulopathy, hypoalbuminemia, and elevated serum ferritin. Salivary gland biopsy and magnetic resonance imaging detected extrahepatic siderosis in 70% (14/20) and 56% (14/25), respectively. IVIG, ET, and liver transplantation were performed in 19 (48.7%), 15 (38.5%), and 8 (20.5%) patients, respectively. The overall survival (OS) rate and native liver survival (NLS) rate were 64.1% (25/39) and 43.6% (17/39), respectively. Although the compiled results did not support a significant benefit, the OS and NLS were higher in the IVIG with/without ET group compared with those treated with conventional therapy [OS (70 vs. 57.9%) and NLS (55 vs. 31.6%), respectively].Conclusion: A high index of suspicion for GALD is crucial when facing a neonate with liver failure. Despite no significant influence on the outcome over conventional therapy in such a rare and detrimental disease, IVIG with or without ET can be worth trying before resorting to liver transplantation, which is resource-demanding and technique-challenging in small infants.

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Section: Discussionsupporting

confidence: 68%

Efficacy of Intravenous Immunoglobulin/Exchange Transfusion Therapy on Gestational Alloimmune Liver Disease

et al. 2021

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“…Table 1 summarizes the clinical characteristics of published cases of twins pregnancy affected by NH in the literature. 7 8 9 10 11 …”

Section: Discussionmentioning

confidence: 99%

Heterogeneous Presentation of Neonatal Hemochromatosis in Dichorionic Twins

Chee

Wong

2018

AJP Rep

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Acute liver failure (ALF) in neonates is rare. Although the incidence is reported to be rare, neonatal hemochromatosis (NH) has to be considered as one of the causes of neonatal ALF. We present a pair of dichorionic twin who had a diverse clinical presentation of NH. One twin passed away despite medical treatment with exchange transfusion and intravenous immunoglobulin (IVIg), whereas the other twin suffered from only mildly deranged liver function, which normalized spontaneously. Early identification of liver failure and clinical awareness of this disease entity are essential to its timely diagnosis and treatment. Antenatal management using IVIg prevents the recurrence of NH in subsequent pregnancies.

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“…As highlighted by the current case, in fetuses presenting with hydrops, once the most common etiologies have been excluded, hepatobiliary complications and liver failure caused by GALD should be taken into account (19)(20)(21)(22)(23).…”

Section: Discussionmentioning

confidence: 99%

GALD: new diagnostic tip for early diagnosis - a case report and literature review

Zermano

Novak

Vogrig

et al. 2023

Front. Reprod. Health

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ObjectiveGestational alloimmune liver disease is a rare and serious condition caused by a maternal-fetal alloimmune disorder. There are not many studies about the antenatal treatment (IVIG infusion) of affected fetuses as the diagnosis is generally made postnatally. The possibility of an early diagnosis by means of ultrasonography and a gynecologist's assesment can provide prompt treatment of this disease.Case reportWe report the case of 38-year-old pregnant woman referred to our centre in view of severe fetal hydrops seen by ultrasound at 31 weeks + 1 day gestation. A male infant was born and subsequently died after developing liver failure. Postmortem examination revealed the presence of diffuse hepatic fibrosis in the absence of hemosiderin deposits and no extrahepatic siderosis. Immunohistochemical analysis was also performed which showed diffuse hepatocyte positivity for the terminal complement complex (C5b-C9) confirming the suspicion of GALD.MethodsA comprehensive literature search published from 2000 to 2022 was conducted on PubMed and Scopus. Paper selection was performed following the PRISMA guidelines. Fifteen retrospective studies were identified and selected.ResultsA total of 15 manuscripts describing 26 cases were finally included in our research. Twenty-two fetuses/newborns with suspected GALD were studied, of which 11 had a confirmed histopathological diagnosis of GALD. Prenatal diagnosis of gestational alloimmune liver disease is difficult because ultrasound findings may be absent or nonspecific. Only one case report described fetal hydrops similar to our clinical case. As highlighted by the current case, in fetuses presenting with hydrops, once the most common etiologies have been excluded, hepatobiliary complications and liver failure caused by GALD should be consideredConclusionsGlobal knowledge of this disorder and its wide spectrum of presentations may help to increase the number of cases that are diagnosed early and accurately. The recurrence rate of an infant being affected with GALD in another pregnancy is more that 90%. Recurrence however can be prevented by treatment with IVIG during pregnancy. This highlights the importance of having obstetricians and pediatricians familiar with gestational alloimmune liver disease.

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Disparate clinical findings in monochorionic twins with neonatal hemochromatosis

Cited by 4 publications

References 5 publications

Efficacy of Intravenous Immunoglobulin/Exchange Transfusion Therapy on Gestational Alloimmune Liver Disease

Efficacy of Intravenous Immunoglobulin/Exchange Transfusion Therapy on Gestational Alloimmune Liver Disease

Heterogeneous Presentation of Neonatal Hemochromatosis in Dichorionic Twins

GALD: new diagnostic tip for early diagnosis - a case report and literature review

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