How do you test for Sitosterolemia?

A blood test that reveals frank elevation in phytosterol levels is considered diagnostic for sitosterolemia. Genetic testing for mutations in the ABCG8 and ABCG5 genes is available to confirm the diagnosis. In untreated individuals with sitosterolemia, the sitosterol concentration can be as high as 10 to 65 mg/dL.

What causes Sitosterolemia?

Causes. Sitosterolemia is caused by mutations in the ABCG5 or ABCG8 gene. These genes provide instructions for making the two halves of a protein called sterolin. This protein is involved in eliminating plant sterols, which cannot be used by human cells.

Do plant sterols lower cholesterol?

Plant sterols and stanols have a similar chemical structure to cholesterol and are thought to decrease the absorption of cholesterol in our intestine. This reduction in cholesterol absorption increases our liver’s uptake of LDL cholesterol and as a result can reduce our blood LDL cholesterol levels.

Is sitosterolemia hereditary?

Sitosterolemia, increasingly called Phytosterolemia or Xenosterolemia, is an inherited condition that can lead to premature heart disease and other complications.

How is sitosterolemia treated?

Treatment of sitosterolemia may include dietary changes, pharmacologic agents, and/or surgical intervention. A diet low in plant sterols may be recommended. Bile acid-binding resins may be administered. An ileal bypass may be indicated.

Is sitosterolemia fatal?

(2017). “Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed”. Annals of Hepatology. 16 (6): 970–978.

Can plant sterols harm you?

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.

Do plant sterols cause liver damage?

Phytosterols are not fully metabolized by the human body and must be excreted through the hepatobiliary system. Accumulating scientific evidence suggests that administration of high doses of intravenous lipids that are high in phytosterols contributes to the development of parenteral nutrition-associated liver disease.

How is the diagnosis of sitosterolemia established?

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.

Who is most likely to have sitosterolemia?

Men and women are equally likely to have sitosterolemia, and anyone with this condition will have had it from birth, although many are not diagnosed until later. Researchers identified one individual with sitosterolemia out of 2542 persons in whom plasma concentration of plant sterols was analyzed.

Is sitosterolemia an autosomal recessive?

Sitosterolemia is an autosomal recessive genetic condition caused by mutations in the ABCG5 or ABCG8 gene. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent.

What is the prognosis of sitosterolemia?

The prognosis for patients with sitosterolemia is not clear, given the extreme rarity of the disease 6). Early diagnosis and treatment correlate with a better outcome. Left untreated, sitosterolemia has significant morbidity and increased risk of early mortality. The availability of ezetimibe may dramatically improve the prognosis.