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ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall
Eva Sticova1,2,3, Magdalena Neroldova1,4, Radana Kotalova5
1Institute for Clinical and Experimental Medicine, Videnska 1958/9, Prague 4, 140 21, Czech Republic.
Summary
Progressive familial intrahepatic cholestasis type 3 (PFIC3) can mimic Wilson disease (WD). Accurate diagnosis of PFIC3, caused by ABCB4 gene mutations, is crucial for proper patient management.
Area of Science:
- Hepatology
- Genetics
- Biochemistry
Background:
- Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare genetic liver disorder.
- It results from deficiency of the ATP-binding cassette subfamily B member 4 (ABCB4) protein.
- PFIC3 causes altered bile composition and can resemble Wilson disease (WD).
Observation:
- An 11-year-old male presented with growth retardation and chronic liver disease.
- Initial diagnosis and treatment were for Wilson disease (WD).
- Genetic testing for WD was negative.
Findings:
- Molecular and histopathological analyses revealed novel mutations in the ABCB4 gene.
- Complete absence of the ABCB4/MDR3 protein was confirmed in the liver.
- The patient was correctly diagnosed with PFIC3.
Implications:
- PFIC3 and WD share overlapping clinical features, complicating diagnosis.
- Accurate differentiation is essential as patient management strategies differ significantly.
- Early diagnosis optimizes therapeutic approaches and prevents complications.
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