system
Medical AI Inquiry: You were designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.
user
A patient was found to have high LDL, increased total cholesterol. But normal levels of LDL-Receptors. What is the most probable cause:
assistant
The correct answer is  This is Familial defective Apo B100, also known as Autosomal Dominant Hypercholesterolemia IIa. There is a mutation in the gene encoding Apo B100, specifically in LDL-receptor binding domain of Apo B100.