Sitosterolemia FAQ
What causes Sitosterolemia?
Sitosterolemia is caused by mutations in the ABCG5 or ABCG8 genes, which disrupt the body's ability to excrete plant sterols.
How is Sitosterolemia diagnosed?
Diagnosis typically involves blood tests to measure sterol levels, genetic testing, and a review of family medical history.
What are the symptoms of Sitosterolemia?
Symptoms may include cholesterol deposits in the skin, atherosclerosis, and premature heart disease.
Can Sitosterolemia be treated?
Yes, treatments focus on dietary management and medications that help reduce plant sterol levels.
Is there a special diet for Sitosterolemia?
Patients are usually advised to avoid foods high in plant sterols, such as nuts, seeds, and certain vegetable oils.
What medications are commonly prescribed for Sitosterolemia?
Cholestyramine, Ezetimibe, and statins like Simvastatin are often prescribed to manage cholesterol levels.
Can children have Sitosterolemia?
Yes, Sitosterolemia is a genetic condition and can affect individuals of any age, including children.
What complications can arise from Sitosterolemia?
Complications may include cardiovascular disease and associated health issues due to elevated cholesterol levels.
Is Sitosterolemia common?
No, it is considered a rare disorder with limited prevalence in the general population.
Can I lead a normal life with Sitosterolemia?
With proper management and treatment, many people with Sitosterolemia can lead healthy and active lives.
Are there support groups for Sitosterolemia?
Yes, there are support groups and online communities that provide resources and support for those affected.
How often should I have my cholesterol levels checked?
Regular check-ups are recommended, typically at least once a year, to monitor cholesterol levels.
Can lifestyle changes help manage Sitosterolemia?
Absolutely! A healthy diet, exercise, and avoiding certain foods can significantly help in managing the condition.
What should I do if I suspect I have Sitosterolemia?
Consult a healthcare professional for testing and personalized advice related to your symptoms.
Can my family members be affected by Sitosterolemia?
Yes, it is inherited in an autosomal recessive pattern, so family members can be carriers or affected.
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Information provided by Dr. Nithya Priya Raju. Reviewed by Dr. Mohamed El Khouly