Sitosterolemia FAQ
What causes Sitosterolemia?
It's caused by mutations in the ABCG8 gene, affecting plant sterol metabolism.
Is Sitosterolemia inherited?
Yes, it's an autosomal recessive disorder, requiring two mutated genes.
What are common symptoms of Sitosterolemia?
Premature coronary artery disease and tendon xanthomas are key indicators.
How is Sitosterolemia diagnosed?
Through genetic testing and elevated plant sterol levels in blood tests.
Can diet manage Sitosterolemia?
A low-plant-sterol diet helps, but medication is often necessary.
What medications treat Sitosterolemia?
Ezetimibe is commonly used to reduce sterol absorption.
Is Sitosterolemia life-threatening?
Untreated, it increases cardiovascular risk significantly.
How rare is Sitosterolemia?
It's extremely rare, with few reported cases worldwide.
Can children develop Sitosterolemia?
Yes, symptoms may appear in childhood or adolescence.
What specialists treat Sitosterolemia?
Endocrinologists or lipidologists typically manage care.
Are there new treatments for Sitosterolemia?
Research is ongoing, but current options are limited.
Can lifestyle changes help Sitosterolemia?
Yes, alongside medication, for optimal management.
How is Sitosterolemia different from hypercholesterolemia?
It specifically involves plant sterol accumulation, not just cholesterol.
Is genetic counseling recommended for Sitosterolemia?
Yes, for family planning and risk assessment.
What support is available in Malaysia for Sitosterolemia?
Rare disease support groups and specialist clinics offer assistance.
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