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What are the symptoms of sitosterolemia?

Large xanthomas can cause pain, difficulty with movement, and cosmetic problems. Joint stiffness and pain resulting from plant sterol deposits may also occur in individuals with sitosterolemia. Less often, affected individuals have blood abnormalities.

What is Phytosterolemia?

Abstract. Sitosterolemia or phytosterolemia is a rare autosomal recessive hereditary lipid storage disorder. It is caused by homozygous or compound heterozygous mutations in one of the two ABCG5 and ABCG8 genes encoding the intestinal and hepatic heterodimer ABCG5 (sterolin 1)/ABCG8 (sterolin 2) efflux transporters.

Do plant sterols and stanols cause any bad side effects?

Plant sterols/stanols are generally safe for most healthy people. Side effects include diarrhea or fat in the stool. In people with sitosterolemia, high plant sterol levels have been associated with increased risk of premature atherosclerosis.

How do you treat sitosterolemia?

Ezetimibe is the current standard of care for patients with sitosterolemia. Although ezetimibe lowers plant sterol levels in the blood of patients with sitosterolemia, it still remains very elevated; therefore ezetimibe therapy should be combined with other therapies to further reduce plant sterols levels.

Do plant sterols cause muscle pain?

These can include memory loss, muscle pain or damage, weakness, and nausea. Sterols, on the other hand, are not known to cause side effects when used short-term.

What is CTX disease?

Overview. Cerebrotendinous xanthomatosis (CTX) is a rare condition that affects the body’s ability to metabolize fats known as cholesterols. Patients with CTX are unable to break down different forms of cholesterol, which build up in certain areas of the body.

What are the signs and symptoms of sitosterolemia?

Some sitosterolemia patients only present with blood abnormalities such as low platelet count (thrombocytopenia), abnormally large platelets (macrothrombocytopenia) or abnormally shaped red blood cells (stomatocytes). All sitosterolemia patients will have elevated levels of plant sterols in their blood (see Diagnosis section).

What kind of sterols are elevated in sitosterolemia?

The diagnosis of sitosterolemia is established in individuals who have greatly increased plant sterol concentrations (especially sitosterol, campesterol, and stigmasterol) in the blood and tissues. Shellfish sterols can also be elevated.

Is there a cure or treatment for sitosterolemia?

However, sitosterolemia is manageable with medications that limit plant sterol absorption in the gut and with special diets that contain very little plant sterols. Signs and symptoms of sitosterolemia vary from person to person, but any one of these symptoms alone is reason enough to be tested for it.

How often is sitosterolemia underdiagnosed in the world?

A recent report suggests that sitosterolemia has a global prevalence of at least 1 in 2.6 million for an ABCG5 gene mutation and 1 in 360,000 for an ABCG8 gene mutation. The routine clinical test for measuring plasma concentration of cholesterol does not measure plant sterols; therefore sitosterolemia is likely to be underdiagnosed.