CASE REPORT: A CASE OF CONGENITAL HEPATIC FIBROSIS AS A CAUSE
OF LIVER CIRRHOSIS IN A 31-YEAR OLD FEMALE
Galon, C. B., MD1, De La Cruz, R. MD2, Labio, M. E. MD3 The Medical City
Makati Medical Center 1Fellow, Section of Gastroenterology, Makati Medical Center 2 Consultant, Department of Pathology, Makati Medical Center, The Medical City 3Consultant, Gastroenterology, Makati Medical Center, The Medical City
Significance: Congenital hepatic fibrosis (CHF) is an exceedingly rare congenital disorder of the liver, usually with a heredofamilial tendency presenting within the first two decades of life. Exact prevalence is not known, however there is an estimated 1:10,000 to 1:20,000 cases reported worldwide. It is characterized by ductal plate malformation of interlobular bile ducts resulting from faulty development due to mutations in the PHKD1 gene.
Clinical Presentation: This is a case of a 31 year old female diagnosed with biopsy-proven liver cirrhosis at 11 years of age, after presenting with several episodes of hematemesis due to variceal bleeding found on endoscopy. There were recurrent episodes of hematemesis since diagnosis.
Management: Imaging showed radiologic evidence of cirrhosis with splenomegaly, intrahepatic bile duct dilatation and polycystic kidneys. Histologically, it can manifest with a variable degree of periportal fibrosis with irregularly shaped proliferating bile ducts. Liver biopsy found in this case showed significant portal fibrosis and ectasia of intrahepatic bile ducts. These findings are compatible with liver cirrhosis secondary to Congenital Hepatic Fibrosis and Polycystic kidney disease (CHF-PKD). At present, she is asymptomatic with compensated liver cirrhosis. Her liver synthetic function is being monitored periodically and is undergoing liver transplant evaluation.
Recommendation: Liver biopsy is recommended in these cases to establish a definite diagnosis. It is a must that points of care– e.g. variceal band ligation, immunizations, as well as indication and timing for liver transplantation be established to improve care and mortality for these patients.