A previous post discusses gestational alloimmune liver disease (GALD) (The more you know the more you see) and provides a number of references.  Additional insight into GALD comes from a recent case report (Pediatrics 2012; 129: e1076-79).

In this report, ascites is recognized in utero at 29 weeks.  This ascites was determined to be due to compression of the vena cava by hypertrophy of the hepatic caudate lobe.  When the patient was delivered at 34 weeks gestation, additional testing revealed normal coagulation parameters, peak ferritin level of 750 ng/ml at day 19, and a nodular liver on ultrasonography.  The patient underwent a liver biopsy via minilaparotomy which confirmed cirrhosis but did not show evidence of iron overload.  Tests for a multitude of other liver diseases were negative.  Liver biopsy stains demonstrated C5b-9 complex in >95% of hepatocytes after treatment with monoclonal antibody.  The detection of a high level of C5b-9 neoantigen is highly specific for  GALD.  Clinically, the patient had spontaneous recovery.

Take home points:

1. While iron overload is a hallmark of GALD, it is likely a consequence and not a cause of this severe liver disease.

2. Identifying atypical GALD cases allows the institution of immunotherapy during future pregnancies which reduces the recurrence risk.

3. The phenotypic spectrum of GALD includes the following:

• Neonatal liver failure with iron overload
• Fetal liver failure and/or death with or without iron overload
• Liver cirrhosis and mild neonatal liver disease without iron overload.  These patients likely require special stains (call Peter Whittington for these patients)