Diagnosis Of Congenital Hepatic Fibrosis Research Articles

Clinical and pathological features of 20 cases of congenital hepatic fibrosis

Objective: To investigate the clinical and pathological features of congenital hepatic fibrosis (CHF). Methods: The clinical and pathological findings of 20 patients diagnosed with CHF from 2017 to 2023 were retrospectively analyzed. Results: Among the 20 patients, 8 were males and 12 were females with a median age of 21.5 years. Mostly patients were admitted to the hospital with cirrhosis, portal hypertension and upper gastrointestinal bleeding. Pathological features were diffuse fibrosis in the portal area, formation of fibrous septa of varying width, segmentation of the liver parenchyma, with hyperplasia of small bile ducts. Among them, 1 case (5%) was complicated with Caroli's disease, and 1 case (5%) was HNF1α hepatocellular adenoma. IHC GS showed that was positively expressed in acinar region 3 in 75% cases. Conclusion: CHF is mainly manifested by portal hypertension and its complications. Histopathology is the gold standard for diagnosis. The possibility of CHF should be considered first in children and adolescents with portal hypertension but no history of hepatitis, and complicated kidney disease. The positive pattern of acinus-3 region of GS in IHC is helpful for the diagnosis of CHF.

Congenital Hepatic Fibrosis as a Cause of Recurrent Cholangitis: A Case Report and Review of the Literature

Rare liver diseases caused by ductal plate malformation, such as congenital hepatic fibrosis (CHF), Caroli syndrome, and polycystic liver disease, can have clinical manifestations such as recurrent cholangitis—frequently involving multidrug-resistant microorganisms—leading to difficulties in selecting the optimal antimicrobial treatment. Without prompt recognition, these infections severely hamper the patient’s quality of life and can develop into life-threatening complications. We report here the case of a 50-year-old woman with a history of recurring cholangitis with occasional systemic involvement leading to bloodstream infection, who ultimately received a diagnosis of CHF and was put on chronic suppressive antibiotic therapy while on the waiting list for a liver transplant. We also reviewed the literature collecting cases of recurrent infections occurring in patients with ductal plate malformation.

Diagnosis of Congenital Hepatic Fibrosis in Adulthood.

We studied clinicopathologic features of congenital hepatic fibrosis (CHF) that could aid the diagnosis of this relatively rare condition during adulthood. Five consecutive adult CHF cases were identified in a single institution. Clinical manifestations of CHF varied from asymptomatic to requiring liver transplantation. Three of five cases had other disease associations, including Joubert syndrome, Caroli disease, polycystic kidney disease, and congenital anomaly of hepatic vasculature. No unique common radiologic findings were found. Histologically, all cases showed characteristic abnormal interlobular bile ducts embedded in fibrotic portal stroma, with varying degrees of liver fibrosis. While other disease associations and characteristic liver histomorphology are helpful clues to suspect the diagnosis of CHF in adult patients, other differential diagnoses should be excluded clinically and radiologically. This study highlights the importance of a multidisciplinary diagnostic approach by pathologists, radiologists, and hepatologists for the accurate diagnosis of CHF during adulthood.

Congenital hepatic fibrosis with polycystic kidney disease

Introduction:Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease derived from biliary dysgenesis secondary to ductal plate malformation and is often accompanied by renal cysts or increased renal echogenicity.Patient concerns:A 25-year-old woman was admitted to our hospital with splenomegaly and hepatic cirrhosis of a 3-month duration and fever accompanied by abdominal pain for 3 days. The second patient was a 25-year-old male referred to our hospital with hepatomegaly and splenomegaly of 6-year duration who had experienced fever for 3 months and abdominal distension for 1 week. Both 25-year-old patients were found to have CHF with polycystic kidney disease.Diagnosis:Radiological imaging, including computed tomography (CT), magnetic resonance imaging (MRI), and sonography, revealed hepatic fibrosis, portal hypertension, splenomegaly, ascites, bile duct malformation, polycystic kidneys, and CHF. For the first patient, a liver biopsy confirmed the pathological features of CHF, and genetic testing revealed three heterozygous missense mutations, which were classified as “undetermined” in the public Wilson's disease/ATP7B and ADPKD/PKD1 databases.Interventions:The first patient had undergone a splenectomy for anemia 2 months previously. Because there is no radical cure for CHF, and due to economic reasons, neither patient received liver transplantation. Therefore, we administered only anti-fibrotic supportive treatment for symptoms.Outcomes:Both patients were discharged after their symptoms improved, and both survived for 2 years of follow-up.Conclusion:These cases highlight the value of radiological imaging, pathological examination, and genetic evaluation for the diagnosis of CHF. When an individual with unexplained cirrhosis presents with bile duct dilation and malformation as well as polycystic kidneys, the possibility of CHF should be considered. For individuals found to have polycystic kidneys at a young age, the results of liver function tests and imaging examinations including Fibroscan imaging should be continuously and dynamically monitored to enable early diagnosis of CHF.

Congenital Hepatic Fibrosis Associated with Polycystic Kidney Disease

Congenital hepatic fibrosis (CHF) is an autosomal recessive disorder and occurs as a result of ductal plate malformation. Clinically it is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. The exact incidence and prevalence of CHF are not known, but it is a rare disease. This disorder is diagnosed in most patients during childhood or young adulthood. We present the case of 8 year old female with hepatosplenomegaly, hematemesis, melena, bilateral polycystic kidney disease and a histopathological diagnosis of congenital hepatic fibrosis. She had a history of celiac disease. Congenital hepatic fibrosis belongs to the so-called fibropolycystic diseases. Celiac disease is an immune-mediated enteropathy. We describe its association with congenital hepatic fibrosis.

Laparoscopic findings of congenital hepatic fibrosis: A case report and review of the published work

A 33-year-old man visited a hospital after vomiting blood. Emergent esophagogastroduodenoscopy revealed the presence of varices in the lower esophagus. The patient did not have a past history of alcohol consumption and was negative for hepatitis B and C viruses. He was referred to our hospital for closer examination. Portal hypertension was detected by conventional imaging modalities, but signs of liver cirrhosis, thrombosis, stenosis, malformation of the portal vein and bile duct abnormalities were not observed. We performed laparoscopy-guided liver biopsy to examine the cause of portal hypertension. In addition to prominent development of collateral vessels on hepatic ligaments and the omenta, marbled whitish markings with black-green spots were dispersed over the liver surface, but nodular formation and lymphatic vesicles were not found. Biopsied specimen demonstrated severe dense fibrosis in portal areas and von Meyenburg complexes (vMC). Based on these findings, the diagnosis of congenital hepatic fibrosis (CHF) was made. Post-biopsy hemostasis was confirmed under laparoscopy and no major complications occurred after biopsy. We reviewed 11 cases of CHF which had undergone laparoscopy in Japan, including our case. Marbled whitish markings, black-green spots and collateral vessels were seen in 11, five and seven cases, respectively. When we encounter the patients having portal hypertension of unknown etiology, laparoscopy-guided liver biopsy should be considered as a safe and useful diagnostic procedure. Black-green spots in marbled whitish markings, which reflect vMC in broad fibrotic areas, are laparoscopic characteristics of CHF.

The Intimate Relationship between Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease: A Case Report

Case: This case describes a 38-year-old Korean female with history of hepatitis B (prior positive for Hep B core antibody, treated with Epivir in the post renal transplant setting, now with negative Hep B core antibody and undetectable viral load), thrombocytopenia, diabetes mellitus type II, chronic kidney disease secondary to polycystic kidney disease, status post cadaveric CMV positive renal transplant, with multiple episodes of urosepsis and pyelonephritis. Patient presented with fevers and chills for 1 day with associated nausea and vomiting for 2 days. On admission, the patient denied dysuria or hematuria. Abdominal ultrasound revealed moderately coarse nodular liver parenchyma and multiple cysts in the right liver, the largest one measuring 1.9 × 1.17 cm, and splenomegaly. Patient's family history was positive for polycystic kidney disease in her father. Given the patient's presenting symptoms, radiologic findings, and history of polycystic kidney disease, the patient underwent liver biopsy. Findings were broad fibrous septa with ductal abnormalities suggestive of ductal plate malformation all confirming the diagnosis of Congenital Hepatic Fibrosis. Discussion: Congenital hepatic fibrosis (CHF) is a fibrocystic liver disease that has a close relationship with autosomal recessive polycystic kidney disease (ARPKD). The incidence of ARPKD is around 1:20000, with the incidence of congenital hepatic fibrosis reported to be 43% to 83%. This close relationship has been linked to a mutation in the PKHD1 gene, which encodes a protein found on the primary cilia of renal and bile duct epithelial cells and has been recognized to maintain the tubular architecture of cells in the kidney and liver. ARPKD normally occurs early in patient's life, and will lead to dialysis and/or transplant early in life. Patients who survive past infancy generally seem to have a milder renal phenotype and will maintain good renal function into adulthood, but are at higher risk of liver disease, especially in setting of renal transplantation, which allows patients to live longer. The initial diagnosis is made by identification of an anatomic lesion via ultrasound, CT, MRI and/or MRCP, which then is confirmed by liver biopsy. Recognizing the intimate relationship between ARPKD and CHF and early signs of ensuing portal hypertension are of clinical relevance in early diagnosis and intervention. The goal is to decrease the incidence of bleeding and infection and ultimately to reduce morbidity and mortality in this unique population.Table: Clinical features and complications of congenital hepatic fibrosis

CONGENITAL HEPATIC FIBROSIS WITHOUT ANY SYMPTOMS AS DIAGNOSED BY LAPAROSCOPY

The present report represents the case of a 36-year-old woman with congenital hepatic fibrosis (CHF). She was admitted to our hospital because of gastric varices. She was asymptomatic and her liver function tests were within normal limits. Computed tomography showed hepatomegaly, splenomegaly and collateral circulation, but no evidence of liver cirrhosis. Real-time tissue elastography suggested severe fibrosis of the liver. Laparoscopy showed wide and discrete white markings on the surface of the liver and she was diagnosed with CHF based on the histological examination. The findings obtained from elastography and laparoscopy were useful for making the diagnosis of CHF.

Experience of a single center with congenital hepatic fibrosis: A review of the literature

Congenital hepatic fibrosis (CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. It is one of the fibropolycystic diseases, which also include Caroli disease, autosomal dominant polycystic kidney disease, and autosomal recessive polycystic kidney disease. Clinically it is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. CHF is known to occur in association with a range of both inherited and non-inherited disorders, with multiorgan involvement, as a result of ductal plate malformation. Because of the similarities in the clinical picture, it is necessary to differentiate CHF from idiopathic portal hypertension and early liver cirrhosis, for which a liver biopsy is essential. Radiological tests are important for recognizing involvement of other organ systems. With regards to our experience at Hacettepe University, a total of 26 patients have been diagnosed and followed-up between 1974 and 2009 with a diagnosis of CHF. Presentation with Caroli syndrome was the most common diagnosis, with all such patients presenting with symptoms of recurrent cholangitis and symptoms related to portal hypertension. Although portal fibrosis is known to contribute to the ensuing portal hypertension, it is our belief that portal vein cavernous transformation also plays an important role in its pathogenesis. In all patients with CHF portal vein morphology should be evaluated by all means since portal vein involvement results in more severe and complicated portal hypertension. Other associations include the Joubert and Bardet-Biedl syndromes.

Congenital hepatic fibrosis associated with von Recklinghausen's disease

Congenital hepatic fibrosis is characterized by a ductal plate malformation with duct-like structures and fibrosis. It manifests clinically with portal hypertension and may be associated with multiple congenital defects. We present the case of a 16-year-old male with splenomegaly, leukopenia and thrombocytopenia, esophageal varices, and a histopathological diagnosis of congenital hepatic fibrosis. He exhibits "café au lait" spots and "Lisch" nodules, with a diagnosis of von Recklinghausen s disease. Congenital hepatic fibrosis belongs to the so-called fibropolycystic diseases, in which there is a disordered interaction between cells and the extracellular matrix. Von Recklinghausen s disease affects tissues derived from the neural crest and its diagnosis is based on clinical criteria. It is associated with multiple diseases. We describe its association with congenital hepatic fibrosis for the first time.

Cystic duct dilatation after cholecystectomy in fibropolycystic liver disease

A 50 year-old woman presented with fevers, rigors and right hypochondrial pain. On examination she was pyrexial (38.5 8C) and there was some right hypochondrial tenderness. A cholecystectomy scar was noted on the abdominal wall. A clinical diagnosis of cholangitis was made by the admitting physician. The patient had a complicated past medical history and initially presented 30 years previously at another hospital with jaundice. A liver biopsy at that time suggested a diagnosis of congenital hepatic fibrosis [1]. Over the intervening years, her history was complicated by infrequent episodes of cholangitis, but with time these episodes became more frequent. Subsequent renal imaging was consistent with medullary sponge kidneys, while hepatic imaging performed over 20 years after initial diagnosis showed a cyst in the right lobe of the liver (on ultrasound) with intrahepatic duct dilatation (at ERCP), suggestive of coexisting Caroli’s disease [2]. A further liver biopsy at that time confirmed the diagnosis of congenital hepatic fibrosis. The patient subsequently developed several episodes of cholecystitis and an interval cholecystectomy was performed 3 years prior to the current presentation. On the latest admission, a MRCP (left panel) was performed which revealed multiple small intrahepatic biliary cysts, consistent with Caroli’s disease (left panel, white arrows) with saccular dilatation of the extrahepatic biliary tree. In addition, there was a saccular cystic lesion resembling a gallbladder within the gall bladder fossa (left panel, black arrow). This called into question whether the patient had actually had a previous cholecystectomy, despite the abdominal wall scar. A subsequent multidisciplinary histopathology meeting highlighted the complete removal of the gallbladder, beyond all doubt. A review of the imaging showed that this cystic lesion, reported initially as a gallbladder, on axial T2-weighted MRI (middle panel, arrow) was indeed smaller and in a different position when compared to the pre-cholecystectomy CT scan, where the gallbladder was dilated (right panel, arrow). This saccular cyst within the gallbladder fossa on MRCP most likely represents extrahepatic biliary dilatation of the cystic duct remnant following cholecystectomy, as a consequence of Caroli’s disease. To our knowledge, this is the first case of fibropolycystic disease, where a cystic duct remnant has dilated sufficiently to be mistaken for a gallbladder, even by experienced hepatobiliary radiologists.

Fibrosis Hepática congénita: un espectro clínico variable: Casos clínicos

Congenital hepatic fibrosis (CHF) is an autosomic dominant disease that has been associated with polycystic kidney disease. To describe the medical management of 5 children with CHF and to evaluate the presence and extension of the associated renal disease. Retrospective review of the medical charts of 5 children with CHF, aged 2 to 14 years. Three children presented autosomic recessive polycystic kidney disease, which was diagnosed before the appearance of liver disease manifestations. They presented a more severe liver damage, with a more aggressive clinical course requiring use of transjugular intrahepatic porto-systemic shunts (TIPS) or surgical porto-systemic shunts to control portal hypertension. The other two children, in whom the diagnosed was based on asymptomatic hepatomegaly, had normal renal function and structure with a more benign clinical course. The diagnosis of CHF should be suspected not only in children with polycystic kidney disease but in those children with persistent, hard consistency, left lobe predominance hepatomegaly.

Congenital Hepatic Fibrosis in Saudi Arabia

Congenital hepatic fibrosis (CHF) is a recognized cause of portal hypertension with oesophageal varices, gastro-intestinal haemorrhage and cholangitis in children without significant impairment of hepatic or renal function. This report describes the varied clinical presentation of CHF as seen at King Faisal Specialist Hospital and Research Centre (KFSH & RC) and emphasizes the clinical patterns that should enable a pediatrician to consider the diagnosis. Fourteen children with CHF were diagnosed between 1981 and 1988. The age at presentation ranged from 1.8-14 years (mean: 7.5 years); clinical manifestations at diagnosis were splenomegaly (12), hepatomegaly (11), failure to thrive (10), marked abdominal distention (4), and fever (4). Liver function tests were normal except for high alkaline phosphatase. Eight patients had polycystic kidneys confirmed on ultrasound examination. Upper gastro-intestinal endoscopy showed oesophageal varices of variable severity in all eight patients examined. Splenoportography revealed splenic vein occlusion in one patient. One patient died within days of admission with convulsions, coma, and aspiration pneumonia. One patient was lost to follow-up. The remaining 12 patients are all alive and receive regular follow-up. Two patients required splenorenal shunt. In view of the prevalence of consanguinity in Saudi Arabia, the diagnosis of CHF should be considered in children with hepatomegaly despite normal liver function tests, and particularly in those with renal abnormalities and/or evidence of portal hypertension.

Congenital hepatic fibrosis in children

Twenty-seven children with congenital hepatic fibrosis were followed for three months to 12 years. Hepatosplenomegaly, normal liver function tests, and kidney abnormalities were present in most patients, indicating that a correct diagnosis of congenital hepatic fibrosis could be made using simple clinical, biologic, and radiologic criteria. Esophageal endoscopy showed varices in 21 patients. Sixteen children underwent portal-systemic shunt surgery. Follow-up examinations did not show any impairment of liver function or any sign of hepatic encephalopathy. Cholangitis was present in only three children.

Non-obstructive Dilatation of the Intrahepatic Biliary Tree with Cholangitis

Dilatation of the intrahepatic biliary tree without mechanical obstruction and sometimes with similarly unexplained dilatation of the common bile duct may occur as an isolated developmental abnormality (Caroli's syndrome) or as part of one of a number of rare conditions. These are considered in relation to five patients seen during the past two years. Four were finally proven, on liver biopsy, to have congenital hepatic fibrosis although their initial presentation was with cholangitis which was poorly controlled by antibiotics and eventually led to death in three of them. Surgical attempts to improve biliary drainage in two patients were unsuccessful; this experience together with review of the rare cases in the literature suggests that surgery is only indicated when, as a result of stasis in the dilated biliary tree, calculi form and cause mechanical obstruction. Consistent with the diagnosis of congenital hepatic fibrosis was the finding in three patients of renal abnormalities. The pyelographic appearances in two cases were identical with medullary sponge kidney, although there are important clinical and pathological differences from the usual form of this condition. In the fifth patient, with a long history of portal hypertension dating from childhood, the intrahepatic bile duct dilatation was associated with gross atrophy of the left lobe and the ducts were filled with pus at autopsy. One closely similar case was found in a detailed search of the literature.

Congenital hepatic fibrosis.

SUMMARYA family with a high incidence of hepatomegaly, normal liver function and stillbirths is described. In one member biopsy material confirmed the diagnosis of congenital hepatic fibrosis. This patient's sister probably died of the same disorder. Unusual hepatic sinusoidal prominence was present in the patient described and in one of her daughters, from whom biopsy material is available. Regional adiposity also occurred in three generations.Congenital hepatic fibrosis should be suspected in patients with firm hepatomegaly and normal liver function. It is a familiar vascular anomaly of the liver. It may be symptomless, or it may cause death in childhood or adult life from portal hypertension or renal failure secondary to polycystic disease of the kidneys.