La sitostérolémie

- Ezetimibe is the first choice treatment for sitosterolemia. It inhibits the NCP1L1 transporter, responsible for the absorption of free cholesterol and plant sterols in the enterocyte, and decreases significantly plasma levels of sitosterol and campesterol in patients with sitosterolemia. In addition, the screening for sitosterolemia among relatives is important in order to set up a treatment as early as possible.