S. Pek

Uncovering dysbetalipoproteinemia in a patient initially diagnosed with familial hypercholesterolemia: The role of whole exome sequencing and longitudinal follow-up in diagnostic precision and care.

We report an 18-year-old woman with severe dysbetalipoproteinemia and apolipoprotein E (ApoE) deficiency. Laboratory evaluations showed total cholesterol level: 11.76 mmol/L (454.8 mg/dL); triglyceride (TG) level: 2.90 mmol/L (256.9 mg/dL), and a low-density lipoprotein cholesterol level: 8.18 mmol/L (316.3 mg/dL). Lip...