Liver failure with marked hyperferritinemia: DISCUSSION Part 3

DISCUSSION

The estimated five-year survival for treated HLH patients is 21%. Chemotherapy alone results in a 10.1% survival rate, but survival increases to 66% with bone marrow transplantation. Liver transplantation is a contraindication for these patients, and indeed, poor outcomes and/or reoccurrence of disease in the graft have been documented in HLH patients who have been…

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Liver failure with marked hyperferritinemia: DISCUSSION Part 2

DISCUSSION

This patient’s coagulopathy, hypoalbuminemia, hyperbilirubinemia, splenomegaly and hyperferritinemia led us to consider both HLH and PH as the etiology of his liver failure. However, his persistent fever, cytopenia and severe hypofibrinogenemia were less typical of PH. His MRI did not show evidence of hepatic or extrahepatic iron deposition. While MRI has been valuable in the…

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Liver failure with marked hyperferritinemia: DISCUSSION Part 1

Although HLH is primarily a hematological disorder, infants with this disease may initially present to the pediatric gastroenterologist with liver failure. Variable hepatic manifestations have been described in HLH, ranging from mild synthetic dysfunction and jaundice to overt liver failure. Between 16% to 36% of HLH patients have some form of hepatic involvement. It is…

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Liver failure with marked hyperferritinemia: CASE PRESENTATION Part 3

Neonatal liver failure

Ultrasonography with Doppler showed hepato-splenomegaly, absence of focal hepatic lesions, and patent portal and hepatic blood vessels. Magnetic resonance imaging (MRI) was remarkable for an enlarged spleen containing multiple nodular lesions; however, there was no abnormal iron deposition in the hepatic or extrahepatic organs. Tissue biopsies were obtained to establish the diagnosis and appropriately direct…

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Liver failure with marked hyperferritinemia: CASE PRESENTATION Part 2

Neonatal liver failure

On admission to the hospital, the infant’s weight was 5.92 kg (greater than the 95th percentile). He appeared active, nontoxic and nutritionally replete. He had no dysmorphic features and was not jaundiced. Moderate hepatosplenomegaly was present; there was no obvious ascites, peripheral edema or scrotal swelling. Initial laboratory results included: white blood cell count 9.2×109/L,…

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Liver failure with marked hyperferritinemia: CASE PRESENTATION Part 1

Neonatal liver failure

A six-week-old African-American male infant was transferred from a community hospital for evaluation of persistent fever. He was the product of an uncomplicated pregnancy of nonconsanguineous parents of Jamaican ethnicity. There was no family history of liver disease, and he had a healthy seven-year-old half-sibling. He was delivered at term with a birth weight of…

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Liver failure with marked hyperferritinemia: ‘Ironing out’ the diagnosis

Neonatal liver failure

The diagnostic guidelines for hemophagocytic lympho-histiocytosis (HLH) include clinical, laboratory and histopathological criteria. The clinical hallmarks of the disease — fever, cytopenia, hepatosplenomegaly, hypofib-rinogenemia and/or hypertriglyceridemia — are somewhat nonspecific; thus, accurate diagnosis may be difficult. A spectrum of hepatic manifestations has been described, but fulminant hepatic failure is often not recognized as a presentation…

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