Sitosterolemia is a rare genetic condition that affects cholesterol absorption in the body. Individuals with this disorder accumulate plant sterols, leading to elevated cholesterol levels and potential cardiovascular issues. Management often involves dietary adjustments and medication to regulate cholesterol levels.

Sitosterolemia FAQ


What causes Sitosterolemia?

Sitosterolemia is caused by mutations in the ABCG5 and ABCG8 genes, which are responsible for the transport of plant sterols.

How is Sitosterolemia diagnosed?

Diagnosis typically involves blood tests to measure cholesterol and plant sterol levels, alongside a thorough review of family medical history.

What symptoms should I look out for?

Symptoms can include joint pain, atherosclerosis, and in some cases, xanthomas (fatty deposits) on the skin.

Is Sitosterolemia common?

Sitosterolemia is considered a rare condition, often underdiagnosed, with prevalence estimates ranging from 1 in 1,000,000 to 1 in 100,000.

A low-sitosterol diet, reducing intake of foods high in plant sterols like nuts, seeds, and certain vegetable oils is often advised.

Can I lead a normal life with Sitosterolemia?

Yes, with proper management, including diet and medications, individuals can lead healthy and active lives.

Are there effective treatments available?

Yes, medications like ezetimibe and statins are often used to help lower cholesterol levels in individuals with Sitosterolemia.

Is genetic testing available?

Yes, genetic testing can confirm a diagnosis of Sitosterolemia by identifying mutations in the relevant genes.

How often should I consult my doctor?

Regular check-ups, typically every 6 to 12 months, are recommended to monitor cholesterol levels and overall health.

Can Sitosterolemia lead to heart disease?

Yes, due to elevated cholesterol levels, individuals with Sitosterolemia are at a higher risk for cardiovascular disease if left unmanaged.

Is there a risk of developing xanthomas?

Yes, xanthomas can develop in individuals with high levels of plant sterols in the bloodstream.

What role does lifestyle play in managing Sitosterolemia?

Lifestyle changes, particularly diet and regular exercise, play a crucial role in controlling cholesterol levels.

Can children be affected by Sitosterolemia?

Yes, Sitosterolemia is a genetic condition and can be present from birth, often requiring early management.

Should I avoid all cholesterol?

Not necessarily; focus on managing intake of both dietary cholesterol and plant sterols, under the guidance of a healthcare provider.

What support resources are available?

Support groups and associations can provide valuable information and community for individuals and families affected by Sitosterolemia.

Releated topics