What are the causes of abdominal pain, jaundice, and cerebellar signs, and what laboratory tests are indicated?

From the Guidelines

The combination of abdominal pain, jaundice, and cerebellar signs suggests a complex clinical presentation that requires a thorough diagnostic workup, and initial laboratory tests should include liver function tests, complete blood count, and serum bilirubin levels, with abdominal US being the recommended initial diagnostic test of choice in patients with suspected obstruction of the common duct, as per the American College of Gastroenterology 1. The clinical presentation of abdominal pain, jaundice, and cerebellar signs can be caused by various conditions, including Wilson's disease, hepatitis, alcoholic liver disease, and autoimmune disorders.

• The initial diagnostic test of choice in patients with suspected obstruction of the common duct is abdominal US, which can detect both cirrhosis and the presence of dilated intrahepatic/extrahepatic bile ducts, with a sensitivity of 65% to 95% for detecting cirrhosis 1.
• Abdominal US is also accurate for the depiction of biliary obstruction, with a wide range of reported sensitivities (32%-100%) and specificities (71%-97%) 1.
• However, the cause of the biliary obstruction is not always clear on US, and additional tests such as CT abdomen or MRI may be necessary to determine the site and cause of biliary obstruction, with contrast-enhanced CT being very sensitive (74%-96%) and specific (90%-94%) for detecting biliary obstruction 1.
• Laboratory tests such as serum ceruloplasmin, 24-hour urinary copper excretion, and liver function tests can help diagnose Wilson's disease, which is a possible cause of this clinical presentation, and genetic testing for ATP7B mutations can confirm the diagnosis 1.
• Other conditions to consider include hepatitis, alcoholic liver disease, and autoimmune disorders, which would require viral hepatitis panel, alcohol markers, and autoimmune antibodies, and treatment would depend on the underlying cause of the clinical presentation.
• The most appropriate initial step in the diagnostic workup is to perform an abdominal US, followed by additional tests and laboratory studies as needed, to determine the underlying cause of the clinical presentation and guide treatment, with the goal of improving morbidity, mortality, and quality of life outcomes 1.

From the Research

Causes of Abdominal Pain, Jaundice, and Cerebellar Signs

• Abdominal pain, jaundice, and cerebellar signs can be caused by various conditions, including acute liver failure 2, disorders of bilirubin metabolism, hepatocellular dysfunction, or biliary obstruction 3, 4
• Prehepatic causes of jaundice include hemolysis and hematoma resorption, which lead to elevated levels of unconjugated bilirubin 4
• Intrahepatic disorders can lead to unconjugated or conjugated hyperbilirubinemia, and may be caused by conditions such as alcohol, infectious hepatitis, drug reactions, and autoimmune disorders 4
• Posthepatic disorders, such as gallstone formation, biliary tract infection, pancreatitis, and malignancies, can also cause conjugated hyperbilirubinemia 4

Laboratory Tests Indicated

• Liver chemistry tests, including bilirubin (conjugated and unconjugated), alkaline phosphatase, alanine aminotransferase, aspartate aminotransferase, and total protein, are necessary for evaluation 3, 4
• Urine test for bilirubin can indicate the presence of conjugated hyperbilirubinemia 4
• Complete blood count and initial tests for liver function and infectious hepatitis may also be necessary 4
• Abdominal imaging by ultrasonography or computed tomographic scanning may be required for further evaluation 4
• In some cases, more invasive procedures such as cholangiography or liver biopsy may be needed to arrive at a diagnosis 4

Specific Conditions

• Acute liver failure may be caused by paracetamol and warfarin toxicity, autoimmune and viral hepatitis, and herbal and dietary supplements 2
• Glucose-6-phosphate dehydrogenase deficiency (G6PDD) can cause jaundice, abdominal pain, and signs of hemolysis, especially in young males with a positive family history and applicable ethnic origin 5
• Primary biliary cirrhosis can present with fatigue, pruritus, and abdominal pain, and may be associated with other diseases such as arthropathy and autoimmune thyroiditis 6