How do I know if I have 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.
How do you treat sitosterolemia?
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.
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.
What causes Sitosterolemia?
Are phytosterols good for you?
Boost Your Cholesterol-Lowering Potential With Phytosterols. Phytosterols (called plant sterol and stanol esters) are found in plant cell membranes. Phytosterols are similar in structure to cholesterol in the human body and block cholesterol from being absorbed. They should be part of a heart-healthy eating plan.
What is sitosterolemia?
Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues. These lipids are called plant sterols (or phytosterols). Sitosterol is one of several plant sterols that accumulate in this disorder, with a blood level 30 to 100 times greater than normal.
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.
What are the possible complications 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.
Is sitosterolemia inherited or recessive?
Sitosterolemia is an inherited autosomal recessive genetic condition. Autosomal recessive is one of the ways a disease can be passed down through families. An autosomal recessive disease means that to develop the disease two copies of the abnormal gene must be present.