American Board of Internal Medicine (ABIM) Certification Practice Exam

What condition should be considered for all patients under 40 years with unexplained liver disease?

1. Hemochromatosis

2. Hepatitis C

3. Wilson disease

4. Autoimmune hepatitis

The correct answer is: Wilson disease

In patients under 40 years of age with unexplained liver disease, Wilson disease should be a primary consideration. This genetic disorder leads to abnormal copper metabolism, resulting in copper accumulation in various tissues, particularly the liver and brain, which can manifest as hepatic dysfunction. The prevalence of Wilson disease is higher in younger populations and can present with a range of liver-related symptoms, including jaundice, hepatomegaly, and, in more severe cases, acute liver failure. Neurological and psychiatric symptoms can also occur as the disease progresses, making it vital to consider this condition when diagnosing unexplained liver issues in younger patients. While conditions like hemochromatosis, hepatitis C, and autoimmune hepatitis are important considerations in liver disease, their typical presentations and age distribution differ. Hemochromatosis usually has an onset later in life and is often associated with known risk factors. Hepatitis C has become less common in younger individuals due to decreased prevalence and effective prevention strategies. Autoimmune hepatitis is also less frequently diagnosed in this particular age group compared to Wilson disease, which warrants thorough investigation through appropriate screening tests, such as serum ceruloplasmin levels and 24-hour urinary copper excretion, when a young patient presents with unexplained liver issues.