Is congenital hepatic fibrosis a pure liver disease?
Ozlem Yönem1, Nihal Ozkayar, Ferhun Balkanci
1Department of Gastroenterology, Hacettepe University, Ankara, Turkey.
Insights
Congenital hepatic fibrosis (CHF) is often linked to other organ issues, not just the liver. This study highlights CHF as a multiorgan disorder affecting the brain, kidneys, and bile ducts.
Area of Science:
- Hepatology
- Genetics
- Radiology
Background:
- Congenital hepatic fibrosis (CHF) is increasingly recognized as being associated with various other medical conditions.
- Understanding these associations is crucial for comprehensive patient management.
Purpose of the Study:
- To prospectively investigate disorders associated with congenital hepatic fibrosis (CHF).
- To evaluate the clinical consequences of these associated disorders in patients with CHF.
Main Methods:
- Diagnosis of CHF involved liver biopsy, abdominal ultrasound (US), Doppler US, upper endoscopy, and computed tomography (CT).
- Advanced imaging like CT portography, splenoportography, and digital subtraction angiography were used when indicated.
- Endoscopic retrograde cholangiopancreatography (ERCP) and cranial MRI were performed to assess bile duct and brain involvement, respectively.
Main Results:
- Nineteen patients (13 women, 6 men) with a mean age of 29.47 years were studied.
- Associated conditions included Caroli's syndrome, polycystic kidney disease, portal vein cavernous transformation, Joubert's syndrome, von Meyenburg complex, polydactyly, medullary sponge kidney, and pancreatic duct atrophy.
- Two patients developed cholangiocarcinoma; three died from CHF complications. Liver transplantation was performed in two patients with Caroli's syndrome.
Conclusions:
- Congenital hepatic fibrosis (CHF) is frequently a multiorgan disorder, not limited to the liver.
- The clinical presentation often involves other organs such as the brain, kidneys, and bile ducts.
- Recognizing CHF as a systemic condition is vital for effective diagnosis and treatment.
Objectives:
An association between congenital hepatic fibrosis (CHF) and several different conditions is being increasingly recognized. We aimed to investigate, prospectively, these associated disorders and the clinical consequences for patients with CHF.
Materials And Methods:
CHF was diagnosed using liver biopsy, abdominal ultrasound (US), Doppler US, upper endoscopy, and abdominal computed tomography (CT) in 19 patients (13 women, 6 men). CT portography and splenoportography with digital subtraction angiography were performed if indicated. Endoscopic retrograde cholangiopancreatography (ERCP) was performed to investigate the extent of portal vein involvement of the common bile duct if it existed, to remove a stone located in the common bile duct when documented, and to confirm the diagnosis of Caroli's syndrome. Cranial MRI was done when clinical findings suggested brain involvement.
Results:
The mean age of the patients was 29.47+/-12.06, ranging from 13 to 57. CHF-associated diseases were Caroli's syndrome, polycystic kidney disease, cavernous transformation of the portal vein, Joubert's syndrome, von Meyenburg complex, polydactyly, medullary sponge kidney, and pancreatic duct atrophy. In two cases, cholangiocarcinoma had developed. There was only one case with pure CHF. Portosystemic shunt, TIPS, or splenectomy were performed in some cases to control bleeding from esophageal varices. Papillotomy and stone extraction from the common bile duct were performed in four patients with Caroli's syndrome complicated by cholangitis. Three patients died of complications of CHF. Two patients with Caroli's syndrome underwent liver transplantation.
Conclusion:
In this prospective study, it seems that CHF is not a pure liver disease but rather a multiorgan disorder involving the brain, portal vein, kidneys, and bile ducts. In most cases, the clinical picture includes other organ involvement, rather than purely the liver parenchyma.
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