Rosh Internal Medicine Boost Practice Exam

Which physical exam finding suggests a diagnosis of familial hypercholesterolemia?

1. Bony nodules on the interphalangeal joints

2. Hepatosplenomegaly

3. Widespread flat hyperpigmented macules

4. Yellow papules on the eyelids

The correct answer is: Yellow papules on the eyelids

The presence of yellow papules on the eyelids is indicative of familial hypercholesterolemia, a genetic disorder that leads to elevated cholesterol levels and consequently an increased risk of cardiovascular diseases. These yellow papules, known as xanthelasmas, are cholesterol deposits that can occur on the skin, particularly around the eyes. Their occurrence in a patient can suggest an underlying dyslipidemia, such as familial hypercholesterolemia, especially when these findings are accompanied by a family history of elevated cholesterol or early cardiovascular disease. In contrast, the other physical exam findings provided are not specific to familial hypercholesterolemia. Bony nodules on the interphalangeal joints could relate to various joint diseases, such as osteoarthritis or gout, while hepatosplenomegaly is often associated with liver disease or hematological conditions. Widespread flat hyperpigmented macules can suggest other dermatological conditions but are not linked with hypercholesterolemia. Each of these alternative findings points to different medical conditions, highlighting the specificity of xanthelasmas in the context of familial hypercholesterolemia.