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Case of the month |
Department of Radiology, Bristol Royal Infirmary, Bristol BS2 8HW, UK
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On physical examination the patient was haemodynamically stable but had signs of chronic liver disease with finger clubbing, spider naevi, gynaecomastia and small testes. The spleen was palpable 10 fingerbreadths below the left costal margin.
Haemoglobin was 13.2 g dl-1. Serum urea, electrolytes and calcium were normal. Serum liver function tests included bilirubin 51 (normal<17), alkaline phosphatase 161 (normal 20–120), aspartate transaminase 56 (normal 6–35). Prothrombin time was prolonged (INR 1.4). Autoantibodies and viral studies, including hepatitis A, B and C serology, were negative. Iron and copper studies and alpha-1-antitrypsin levels were normal.
What abnormalities are demonstrated on the CT (Figure 1
) and ultrasound (Figure 2) images? Suggest a unifying diagnosis.
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). Pronounced venous collateral drainage was demonstrated within the anterior abdominal wall, via recanalization of the umbilical vein, and at the gastro-oesophageal junction (Figure 1a, b). A splenic artery aneurysm was also visible (Figure 1a). CT also demonstrated ascites. In addition, both ultrasound and CT showed bilateral nephrocalcinosis. Portal hypertension was confirmed on Doppler ultrasound with enlargement of the portal vein, reversal of flow, arterialization of the spectral trace and recanalization of the umbilical vein. The reflectivity of the liver was heterogeneous and predominantly increased.
Several liver biopsies over the preceding years had demonstrated minor dilatation of vascular channels with some surrounding fibrous tissue and areas of regeneration. There was no evidence of cirrhosis or significant inflammation.
The combination of portal hypertension and nephrocalcinosis in the absence of a precipitating hepatic insult led to the clinical diagnosis of congenital hepatic fibrosis (CHF).
CHF is a rare developmental disorder of the liver that is defined pathologically by fibrous enlargement of the portal tracts or by portal–portal bands of fibrous tissue containing abnormal bile ducts. The lobular liver architecture is usually preserved and liver function is often near normal [1]. CHF is usually a fatal disease following a rapid progression. In most cases it is associated with variable forms of renal tubular ectasia [2]. CHF occurs principally in children and young adults and is a rare cause of hepatosplenomegaly and portal hypertension.
The term CHF was originally introduced by Kerr et al in 1961 [3] and probably supersedes conditions known as "biliary fibroadenomatosis" and "cholangiodysplastic pseudocirrhosis". The wide variety of terms signifies what is probably a broad, merging spectrum of disorders. Four different clinical forms are described: one with portal hypertension; one in which cholangitis is the dominant feature and portal hypertension is absent; a mixed portal hypertensive-cholangitis form; and a latent form [4]. Liver biopsy may yield the definitive diagnosis of CHF, but often reveals normal or non-specific features as in this case. Some authors [5] consider the combination of hepatosplenomegaly, portal hypertension and minimally deranged serum liver function tests with associated nephrocalcinosis as sufficient to diagnose CHF.
Jorgensen [6] hypothesised that the basic lesion of CHF corresponds to ductal plate malformation of the interlobular bile ducts. The bile ducts are subject to a progressive destructive cholangiopathy leading to varying degrees of biliary fibrosis and biliary tract dilatation. This may vary in speed and duration, hence the clinical spectrum. This spectrum will include dilatation of larger intrahepatic ducts as seen in Caroli's disease. The renal disease most often associated with CHF is autosomal recessive polycystic renal disease. In this the renal lesions show a comparative pattern of evolution. Indeed, both the fusiform ectasia of the collecting ducts in the kidney and ductal plate malformation of the interlobular bile ducts seem to result from a faulty epithelial–mesenchymal inductive interaction [1]. The renal lesions are identical to those seen also in medullary sponge kidney [7] and nephronophthisis [8], both of which have been described as associations of CHF. However, the renal abnormality is often clinically insignificant.
The clinical hepatorenal presentation depends upon the rate of destruction of the biliary and renal epithelia. Desmet [1] proposes that in cases of CHF with a cholestatic picture, the destructive cholangiopathy has not yet burnt out, resulting in some liver biopsies showing features of regeneration.
Splenic artery aneurysms are associated with portal hypertension, which is the most likely aetiology in this case [9].
In conclusion, CHF should be considered in all patients with evidence of chronic liver disease and portal hypertension with associated renal lesions.
Received for publication May 25, 2001. Revision received September 3, 2001. Accepted for publication September 7, 2001.
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