If I have the disease what are the chances my children will have it?
Sitosterolemia is an inherited autosomal recessive genetic condition. An autosomal recessive disease means that to develop the disease two copies of the abnormal gene must be present. Affected individuals inherit two copies of the mutated or changed ABCG8 or ABCG5 genes, one from each parent. Therefore the parents are "carriers" of Sitosterolemia, meaning that they have one normal functioning copy and one non-functioning copy of the genes. With each pregnancy, carriers of Sitosterolemia have a 1 in 4 or 25% chance of having a child with the disease.
What are realistic expected plant sterol levels after treatment – is there a therapeutic goal?
While on treatment, the goal is to decrease your plant sterol levels as much as possible. However, this decrease will still be above the "normal". It varies person to person how much their plant sterols levels will decrease.
Do all patients have high total and LDL cholesterol?
No, not all patients with sitosterolemia will have high total and LDL cholesterol. This is why cholesterol testing is not suffient to diagnosis sitosterolemia.