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Progressive Familial Intrahepatic Cholestasis-2 Mimicking Non-accidental Injury
Saigopala Reddy1, Nathan Fleishman2, Katherine Dempsey3
1University of North Carolina School of Medicine, Chapel Hill, NC.
ACG Case Reports Journal
|April 9, 2024
Summary
Progressive familial intrahepatic cholestasis type 2 (PFIC-2) can manifest with severe bleeding issues and anemia, not just liver problems. This case highlights a critical, less common presentation of PFIC-2 in infants.
Area of Science:
- Hepatology
- Genetics
- Pediatric Gastroenterology
Background:
- Progressive familial intrahepatic cholestasis (PFIC) comprises genetic disorders of bile acid secretion and transport, leading to progressive liver disease.
- PFIC affects 1 in 50,000-100,000 births, with PFIC-2 accounting for 50% of cases.
- PFIC-2 typically presents with jaundice, hepatosplenomegaly, pruritus, vitamin deficiencies, and growth failure.
Observation:
- This report details a pediatric case of PFIC-2.
- The patient presented with severe coagulopathy, extensive bruising, subcutaneous hematomas, and acute anemia.
Findings:
- Laboratory findings in PFIC-2 often include normal/low gamma-glutamyl transpeptidase, elevated bilirubin, transaminases, and alpha-fetoprotein.
- This case underscores coagulopathy and anemia as significant, potentially primary, manifestations of PFIC-2.
Implications:
- Recognizing severe coagulopathy and anemia is crucial for early PFIC-2 diagnosis.
- This presentation expands the clinical spectrum of PFIC-2, impacting diagnostic approaches.
- Further research into the hemostatic complications of PFIC-2 is warranted.
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