Diseases
sitosterolemia
For healthcare professionals — reference only. This page is a brief summary, not medical advice and not a substitute for official labeling or clinical judgement. Always verify before prescribing or dispensing.
Overview
Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues.
Symptoms
- asymptomatic at first
- one symptom is when lipids build up and cause xanthomas, which are small, ...
- ... yellowish growths that can appear on the skin of hands, elbows, and knees
Causes
- it is caused by mutations in either the abcg5 or abcg8 gene.
Risk factors
- family history.
Diagnosis
- blood tests.
- genetic testing
Medicines used
Frequently asked questions
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.
What are the symptoms of sitosterolemia?
asymptomatic at first, one symptom is when lipids build up and cause xanthomas, which are small, ..., ... yellowish growths that can appear on the skin of hands, elbows, and knees
What causes sitosterolemia?
it is caused by mutations in either the abcg5 or abcg8 gene.
Which medicines are used for sitosterolemia?
ezetimibe
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