Progressive familial intrahepatic cholestasis: A comprehensive review of a challenging liver disease
1Department of Pathology, G. B. Pant Institute of Postgraduate Medical Education and Research, New Delhi, India.
Insights
Progressive familial intrahepatic cholestasis (PFIC) may be underdiagnosed in India. This review highlights diagnostic clues for pathologists to improve early identification of this rare genetic liver disease in children.
Area of Science:
- Pediatric Hepatology
- Medical Genetics
- Pathology
Background:
- Cholestatic liver disease in children presents diagnostic and therapeutic challenges.
- Accurate diagnosis is often delayed due to the need for multidisciplinary expertise and genetic testing costs.
- Progressive familial intrahepatic cholestasis (PFIC) is a serious hereditary liver disease with potential for liver failure.
Purpose of the Study:
- To raise awareness among pathologists regarding PFIC.
- To elucidate diagnostic clues for PFIC in the Indian context.
- To address the lack of data on PFIC's disease burden and genotype-phenotype correlations in India.
Main Methods:
- Literature review using PubMed.
- Keywords: "PFIC" and "progressive familial intrahepatic cholestasis".
- Analysis of global and Indian research on PFIC.
Main Results:
- PFIC may be more prevalent in India than previously thought.
- Genotype-phenotype correlation data in India is scarce.
- Accurate pathological diagnosis is crucial for timely therapeutic intervention.
Conclusions:
- Pathologists play a key role in the early diagnosis of PFIC.
- Further research is needed to establish the true disease burden in India.
- Understanding PFIC nuances can significantly impact patient outcomes.
Abstract:
Cholestatic liver disease in children represents a diagnostic and therapeutic challenge. The requirement of a multidisciplinary approach, high levels of professional expertise, and the costs of genetic testing are a few of the reasons why such patients may suffer for want of an accurate diagnosis. Progressive familial intrahepatic cholestasis (PFIC) is a hereditary cholestatic liver disease, afflicted children often progressing to liver failure. Despite its potential to cause significant morbidity, it has seldom been studied in India. Preliminary observations made previously at our center while dealing with such cases have suggested that PFIC may actually not be as rare as described in Western literature. A lack of understanding of actual disease burden in India and no data on genotype-phenotype correlation compounds the issue. The aim of this review is to make pathologists aware of the nuances involved in understanding this disease and its diagnostic clues. As a specific diagnosis has direct therapeutic implication for this subset of patients, the onus is on the pathologist to ensure an accurate opinion. A PubMed-based literature search using the keywords "PFIC" and "progressive familial intrahepatic cholestasis" was done to analyze and disseminate both global and Indian work in this arena.
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