Diagnosis

Clinical Presentation

Incidence

Liver disease in children is relatively rare, with an incidence of 1 in 5000-7000. EHPH is approximately twice as common as IHPH in children. The most common cause of IHPH, biliary atresia, occurs at a rate of1 in 15,000 live births. This distribution is distinctly contrary to that seen in adults, who more commonly develop IPPH as a result of alcoholic cirrhosis.

Children with IHPH usually present between several months to one year of life with severe hepatic dysfunction, manifested by jaundice, hepatic encephalopathy and malnutrition complicated by poor growth and increased susceptibility to infections. While the child's liver disease may dominate the clinical picture, it is important to remember that portal hypertension is present in these patients and to be aware of its potential complications, namely variceal bleeding and ascites.

Extrahepatic portal hypertension most commonly presents in the first decade oflife with gastrointestinal hemorrhage from esophageal varices. Bleeding is often precipitated by a respiratory or gastrointestinal febrile illness and aspirin is frequently implicated. Increased portal pressure causes splenic congestion, resulting in splenomegaly and hypersplenism. Portal hypertension, therefore, should be suspected in any child with splenomegaly, unexplained thrombocytopenia, leukopenia, ascites or gastrointestinal hemorrhage.

In a child presenting with an initial episode of gastrointestinal bleeding secondary to portal hypertension, abdominal ultrasonography is used to define the etiology. The presence of portal vein thrombosis, the extent of collateral formation and the direction of portal vein flow is established by this noninvasive and relatively inexpensive diagnostic examination. Likewise, in a child with evidence of chronic liver disease, ultrasonography confirms the presence of portal hypertension and evaluates the liver for abnormalities such as nodular cirrhosis, fibrosis, or ductal dilatation. The presence of spontaneous porto-systemic shunts and esophageal varices as indicated by thickened vessels in the lesser omentum is also documented.

Upper endoscopy is used to identify and quantify esophageal varices. This procedure is ideally performed in the operating room under general anesthesia to provide a controlled environment for a thorough study and possible therapeutic intervention (i.e., sclerotherapy or band ligation). Documentation of varices includes size, location and presence of cherry red spots or red wales (longitudinal red streaks on varices). Identification of other potential sites of bleeding is also important, as many children with portal hypertension also have gastric varices, peptic ulcer disease, esophagitis, or a portal hypertensive gastropathy or enteropathy.

Angiography is another, less used diagnostic and potentially therapeutic modality used in certain cases of portal hypertension. The venous phase of a celiac axis injection demonstrates the anatomy of the portal venous system, while a percutaneous transhepatic approach allows for direct entry into the portal vein and therapeutic dilation of portal vein strictures especially in postliver transplant patients.