Congenital Hepatic Fibrosis in Saudi Arabia

Abstract

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.

Clinical characteristics of Caroli’s syndrome

“…One of these patients died due to sepsis and two of them underwent liver transplantataion because of the development of secondary biliary cirrhosis [14] . Over the past years there has been an increasing recognition of the association of congenital hepatic fibrosis with not only fibropolycystic disease family related diseases but also with abnormalities in other organs such as pulmonary fibrosis, congenital heart disease, pulmonary hypertension with arteriovenous fistula, cavernomatous transformation of the portal vein and with Joubert's syndrome [15][16][17] .…”

“…In cases when progression to biliary fibrosis might occur, transplantation has also to be considered. Early surgery with splenorenal or portocaval shunting may be required in recurrent bleeding episodes not available to sclerotherapy, oesophageal tamponade together with supportive medical treatment [15] . Transjugular intrahepatic portosystemic shunts are considered for patients not available to sclerotherapy.…”

Surgical Management of Caroli’s Disease: Single Center Experience and Review of the Literature

“…1 CD has recently been reported to be associated with a number of additional anomalies including cavernomatous transformation of the portal vein, pulmonary hypertension with arteriovenous fistula, pulmonary fibrosis, congenital heart disease, and Joubert's syndrome. [12][13][14] Caroli's disease is thought to arise from a malformation of the ductal plate in which there is abnormal remodeling of the embryonic bile ducts, such that they retain their primitive ductal plate configuration at the differentiation level of the biliary tree. 15 However, the precise etiology of the disease is still debatable.…”

Fibroblast spreading induced by connective tissue stretch involves intracellular redistribution of α- and β-actin

“…Subcutaneous tissue pieces were mildly fixed in a 2.5% PFA/0.1% glutaraldehyde combination, followed by low temperature dehydration and embedding in the hydrophilic resin Lowicryl K4M (Abdullah et al 1991). Antigenic sites for a-SMA were localized with the protein A-gold technique as previously described (Roth and Taatjes 1998).…”